ELENCO PATOLOGIE GENI MUTAZIONI 28 10 2014.xlsx

www.ngpd.it
Elenco mutazioni NGPD
GENE HGMD ACCESSION
HGMD codon CHANGE
HGMD amino CHANGE
HGVS (nucleotide)
HGVS (protein)
Phenotype
Reference
Source
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
CM112691
CM131642
CM1111098
CM062381
CM131816
CM144487
CM062384
CM067332
CM050964
CM131643
CM131644
CM131645
CM131646
CM112690
CM131647
CM086731
CM112692
CM043249
CM981873
CM1211848
CM050965
CM113479
CM043250
CM060777
CM1311839
CM981874
CM073984
CM144488
CM107074
CM107075
CM131648
CM144489
CM107076
CM131649
CM078137
CM131650
CM088142
CM981875
CM131651
CM078138
CM145511
CM131652
CM060772
CM147659
CM131653
CM131827
CM060776
CM078140
CM131792
CM131794
CM110240
GCC‐GTC
TGC‐GGC
TGC‐TGA
GGC‐CGC
TCG‐TAG
GTG‐GCG
GTC‐GAC
AAC‐AAA
TTT‐TCT
GAC‐GGC
GCG‐ACG
CTC‐CCC
AAC‐AAG
CAC‐CGC
CTC‐CGC
CAG‐TAG
GGG‐AGG
GGG‐GAG
CGG‐CAG
CGG‐CTG
CGG‐TGG
GAA‐TAA
GGG‐AGG
GGG‐CGG
ATG‐GTG
CAC‐CAG
GAG‐AAG
AAC‐ACC
CTG‐GTG
TGG‐TAG
TGG‐TGA
ATC‐ACC
CAG‐TAG
CTC‐CCC
GGG‐AGG
CTG‐CAG
TAT‐TGT
AAT‐AGT
GAG‐TAG
CAG‐TAG
TGG‐GGG
TGG‐TAG
ATG‐AGG
TGG‐TAG
CGC‐TGC
GCC‐GGC
GAC‐AAC
GAC‐GTC
ATC‐AAC
AAG‐TAG
GCC‐ACC
Ala4Val
Cys6Gly
Cys6Term
Gly7Arg
Ser12Term
Val17Ala
Val21Asp
Asn24Lys
Phe27Ser
Asp29Gly
Ala30Thr
Leu31Pro
Asn32Lys
His36Arg
Leu40Arg
Gln54Term
Gly70Arg
Gly70Glu
Arg74Gln
Arg74Leu
Arg74Trp
Glu100Term
Gly111Arg
Gly111Arg
Met115Val
His125Gln
Glu128Lys
Asn131Thr
Leu135Val
Trp143Term
Trp143Term
Ile148Thr
Gln166Term
Leu171Pro
Gly173Arg
Leu175Gln
Tyr179Cys
Asn188Ser
Glu208Term
Gln219Term
Trp232Gly
Trp232Term
Met233Arg
Trp288Term
Arg298Cys
Ala309Gly
Asp310Asn
Asp310Val
Ile320Asn
Lys329Term
Ala355Thr
11C>T
16T>G
18C>A
19G>C
35C>A
50T>C
62T>A
72C>A
80T>C
86A>G
88G>A
92T>C
96C>G
107A>G
119T>G
160C>T
208G>A
209G>A
221G>A
221G>T
220C>T
298G>T
331G>A
331G>C
343A>G
375C>G
382G>A
392A>C
403C>G
428G>A
429G>A
443T>C
496C>T
512T>C
517G>A
524T>A
536A>G
563A>G
622G>T
655C>T
694T>G
695G>A
698T>G
863G>A
892C>T
926C>G
928G>A
929A>T
959T>A
985A>T
1063G>A
A4V
C6G
C6*
G7R
S12*
V17A
V21D
N24K
F27S
D29G
A30T
L31P
N32K
H36R
L40R
Q54*
G70R
G70E
R74Q
R74L
R74W
E100*
G111R
G111R
M115V
H125Q
E128K
N131T
L135V
W143*
W143*
I148T
Q166*
L171P
G173R
L175Q
Y179C
N188S
E208*
Q219*
W232G
W232*
M233R
W288*
R298C
A309G
D310N
D310V
I320N
K329*
A355T
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Banerjee (2011) Eur J Endocrinol 164:733
Snider (2013) J Clin Endocrinol Metab 98:E355
Oçal (2011) J Pediatr Endocrinol Metab 24:1019
Suchi (2006) Mod Pathol 19:122
Kapoor (2013) Eur J Endocrinol 168:557
Mohnike (2014) Horm Res Paediatr 81:156
Suchi (2006) Mod Pathol 19:122
Peranteau (2006) Fetal Diagn Ther 21:515
Stanley (2004) J Clin Endocrinol Metab 89:288
Snider (2013) J Clin Endocrinol Metab 98:E355
Snider (2013) J Clin Endocrinol Metab 98:E355
Snider (2013) J Clin Endocrinol Metab 98:E355
Snider (2013) J Clin Endocrinol Metab 98:E355
Banerjee (2011) Eur J Endocrinol 164:733
Snider (2013) J Clin Endocrinol Metab 98:E355
Hussain (2008) Diabetes 57:259
Banerjee (2011) Eur J Endocrinol 164:733
Tornovsky (2004) J Clin Endocrinol Metab 89:6224
Nestorowicz (1998) Hum Mol Genet 7:1119
Melikyan (2012) Horm Res 78S1:216
Suchi (2003) Pediatr Dev Pathol 6:322
Park (2011) Eur J Endocrinol 164:919
Tornovsky (2004) J Clin Endocrinol Metab 89:6224
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Celik (2013) Horm Res Paediatr 80:299
Nestorowicz (1998) Hum Mol Genet 7:1119
Yan (2007) Diabetes 56:2339
Mohnike (2014) Horm Res Paediatr 81:156
Bellanné‐Chantelot (2010) J Med Genet 47:752
Bellanné‐Chantelot (2010) J Med Genet 47:752
Snider (2013) J Clin Endocrinol Metab 98:E355
Mohnike (2014) Horm Res Paediatr 81:156
Bellanné‐Chantelot (2010) J Med Genet 47:752
Snider (2013) J Clin Endocrinol Metab 98:E355
Hardy (2007) J Pediatr 150:140
Snider (2013) J Clin Endocrinol Metab 98:E355
Damaj (2008) J Clin Endocrinol Metab 93:4941
Nestorowicz (1998) Hum Mol Genet 7:1119
Snider (2013) J Clin Endocrinol Metab 98:E355
Hardy (2007) J Pediatr 150:140
Demirbilek (2014) Eur J Endocrinol 170:885
Snider (2013) J Clin Endocrinol Metab 98:E355
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Sang (2014) Endocr J epub:epub
Snider (2013) J Clin Endocrinol Metab 98:E355
Kapoor (2013) Eur J Endocrinol 168:557
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Hardy (2007) J Pediatr 150:140
Kapoor (2013) Eur J Endocrinol 168:557
Kapoor (2013) Eur J Endocrinol 168:557
Ismail (2011) J Clin Endocrinol Metab 96:24
PubMed 21378087
PubMed 23275527
PubMed 22308858
PubMed 16357843
PubMed 23345197
PubMed 24401662
PubMed 16357843
PubMed 16969006
PubMed 14715863
PubMed 23275527
PubMed 23275527
PubMed 23275527
PubMed 23275527
PubMed 21378087
PubMed 23275527
PubMed 17942822
PubMed 21378087
PubMed 15579781
PubMed 9618169
PubMed: No PubMed ID
PubMed 14692646
PubMed 21422196
PubMed 15579781
PubMed 16429405
PubMed 24080777
PubMed 9618169
PubMed 17575084
PubMed 24401662
PubMed 20685672
PubMed 20685672
PubMed 23275527
PubMed 24401662
PubMed 20685672
PubMed 23275527
PubMed 17236890
PubMed 23275527
PubMed 18796520
PubMed 9618169
PubMed 23275527
PubMed 17236890
PubMed 24686051
PubMed 23275527
PubMed 16429405
PubMed 25008049
PubMed 23275527
PubMed 23345197
PubMed 16429405
PubMed 17236890
PubMed 23345197
PubMed 23345197
PubMed 20943779
www.ngpd.it
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
Elenco mutazioni NGPD
CM1211849
CM082468
CM082469
CM131769
CM1310048
CM981876
CM1212137
CM113480
CM088141
CM078139
CM144525
CM071529
CM063820
CM116312
CM078141
CM144437
CM050966
CM050967
CM062382
CM144494
CM107077
CM131805
CM1212138
CM112695
CM131654
CM131804
CM144495
CM131655
CM060774
CM107078
CM981877
CM050968
CM131828
CM101592
CM147660
CM144438
CM107389
CM1310047
CM050969
CM107079
CM131656
CM131773
CM116313
CM116314
CM107080
CM144526
CM133125
CM062385
CM060770
CM131657
CM144528
CM144499
CM131796
GTC‐ATC
AGG‐GGG
AGG‐AGC
GCA‐GAA
ATT‐TTT
AAC‐GAC
TCC‐CCC
TGG‐TAG
CAG‐CGG
CAG‐CAC
CAG‐CAT
CAG‐CGG
CAG‐TAG
GCC‐GAC
GAG‐TAG
TAT‐TAG
CGG‐CAG
GAG‐AAG
CTC‐CCC
AAG‐AAT
CTG‐ATG
GAG‐AAG
CGG‐CAG
CGG‐CCG
CGC‐TGC
GAG‐AAG
CTC‐CCC
TAT‐TAA
CCC‐CGC
CTC‐TTC
TTC‐TTG
CGA‐TGA
GTC‐ATC
AGC‐ACC
GCG‐GTG
CAG‐TAG
GGC‐GAC
TTC‐ATC
TTC‐TCC
TGG‐TGA
CTG‐CCG
GGC‐AGC
GTG‐GCG
GTG‐GGG
GGC‐GAC
GGC‐TGC
GGC‐AGC
TGC‐TGA
AAG‐ACG
TCC‐TTC
GCA‐ACA
CTG‐CGG
GGG‐GAG
Val357Ile
Arg370Gly
Arg370Ser
Ala390Glu
Ile395Phe
Asn406Asp
Ser408Pro
Trp430Term
Gln444Arg
Gln444His
Gln444His
Gln474Arg
Gln474Term
Ala478Asp
Glu490Term
Tyr491Term
Arg495Gln
Glu501Lys
Leu503Pro
Lys510Asn
Leu511Met
Glu515Lys
Arg521Gln
Arg521Pro
Arg526Cys
Glu529Lys
Leu533Pro
Tyr539Term
Pro551Arg
Leu580Phe
Phe591Leu
Arg598Term
Val601Ile
Ser606Thr
Ala640Val
Gln664Term
Gly684Asp
Phe686Ile
Phe686Ser
Trp688Term
Leu696Pro
Gly706Ser
Val715Ala
Val715Gly
Gly716Asp
Gly716Cys
Gly716Ser
Cys717Term
Lys719Thr
Ser720Phe
Ala726Thr
Leu727Arg
Gly735Glu
1069G>A
1108A>G
1110G>C
1169C>A
1183A>T
1216A>G
1222T>C
1289G>A
1331A>G
1332G>C
1332G>T
1421A>G
1420C>T
1433C>A
1468G>T
1473T>G
1484G>A
1501G>A
1508T>C
1530G>T
1531C>A
1543G>A
1562G>A
1562G>C
1576C>T
1585G>A
1598T>C
1617T>A
1652C>G
1738C>T
1773C>G
1792C>T
1801G>A
1817G>C
1919C>T
1990C>T
2051G>A
2056T>A
2057T>C
2064G>A
2087T>C
2116G>A
2144T>C
2144T>G
2147G>A
2146G>T
2146G>A
2151C>A
2156A>C
2159C>T
2176G>A
2180T>G
2204G>A
V357I
R370G
R370S
A390E
I395F
N406D
S408P
W430*
Q444R
Q444H
Q444H
Q474R
Q474*
A478D
E490*
Y491*
R495Q
E501K
L503P
K510N
L511M
E515K
R521Q
R521P
R526C
E529K
L533P
Y539*
P551R
L580F
F591L
R598*
V601I
S606T
A640V
Q664*
G684D
F686I
F686S
W688*
L696P
G706S
V715A
V715G
G716D
G716C
G716S
C717*
K719T
S720F
A726T
L727R
G735E
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Melikyan (2012) Horm Res 78S1:216
Pinney (2008) J Clin Invest 118:2877
Abdulhadi‐Atwan (2008) Diabetes 57:1935
Kapoor (2013) Eur J Endocrinol 168:557
Dung (2013) Int J Pediatr Endocrinol 2013S1:P179
Nestorowicz (1998) Hum Mol Genet 7:1119
Calabria (2012) Diabetes 61:2585
Park (2011) Eur J Endocrinol 164:919
Damaj (2008) J Clin Endocrinol Metab 93:4941
Hardy (2007) J Pediatr 150:140
Mohnike (2014) Horm Res Paediatr 81:156
Christesen (2007) Horm Res 67:184
Suchi (2006) Mod Pathol 19:122
Macmullen (2011) Diabetes 60:1797
Hardy (2007) J Pediatr 150:140
Su (2014) Horm Res Paediatr 81:169
Stanley (2004) J Clin Endocrinol Metab 89:288
Stanley (2004) J Clin Endocrinol Metab 89:288
Suchi (2006) Mod Pathol 19:122
Mohnike (2014) Horm Res Paediatr 81:156
Bellanné‐Chantelot (2010) J Med Genet 47:752
Kapoor (2013) Eur J Endocrinol 168:557
Calabria (2012) Diabetes 61:2585
Banerjee (2011) Eur J Endocrinol 164:733
Snider (2013) J Clin Endocrinol Metab 98:E355
Kapoor (2013) Eur J Endocrinol 168:557
Mohnike (2014) Horm Res Paediatr 81:156
Snider (2013) J Clin Endocrinol Metab 98:E355
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Bellanné‐Chantelot (2010) J Med Genet 47:752
Nestorowicz (1998) Hum Mol Genet 7:1119
Suchi (2003) Pediatr Dev Pathol 6:322
Kapoor (2013) Eur J Endocrinol 168:557
Kumaran (2010) Horm Res Paediatr 73:287
Sang (2014) Endocr J epub:epub
Su (2014) Horm Res Paediatr 81:169
Bellanné‐Chantelot (2010) J Med Genet 47:752
Dung (2013) Int J Pediatr Endocrinol 2013S1:P179
Stanley (2004) J Clin Endocrinol Metab 89:288
Bellanné‐Chantelot (2010) J Med Genet 47:752
Snider (2013) J Clin Endocrinol Metab 98:E355
Kapoor (2013) Eur J Endocrinol 168:557
Macmullen (2011) Diabetes 60:1797
Macmullen (2011) Diabetes 60:1797
Bellanné‐Chantelot (2010) J Med Genet 47:752
Mohnike (2014) Horm Res Paediatr 81:156
Faletra (2013) Gene 521:160
Suchi (2003) Pediatr Dev Pathol 6:322
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Snider (2013) J Clin Endocrinol Metab 98:E355
Mohnike (2014) Horm Res Paediatr 81:156
Mohnike (2014) Horm Res Paediatr 81:156
Kapoor (2013) Eur J Endocrinol 168:557
PubMed: No PubMed ID
PubMed 18596924
PubMed 18390792
PubMed 23345197
PubMed: No PubMed ID
PubMed 9618169
PubMed 22855730
PubMed 21422196
PubMed 18796520
PubMed 17236890
PubMed 24401662
PubMed 17114887
PubMed 16357843
PubMed 21536946
PubMed 17236890
PubMed 24434300
PubMed 14715863
PubMed 14715863
PubMed 16357843
PubMed 24401662
PubMed 20685672
PubMed 23345197
PubMed 22855730
PubMed 21378087
PubMed 23275527
PubMed 23345197
PubMed 24401662
PubMed 23275527
PubMed 16429405
PubMed 20685672
PubMed 9618169
PubMed 14692646
PubMed 23345197
PubMed 20215776
PubMed 25008049
PubMed 24434300
PubMed 20685672
PubMed: No PubMed ID
PubMed 14715863
PubMed 20685672
PubMed 23275527
PubMed 23345197
PubMed 21536946
PubMed 21536946
PubMed 20685672
PubMed 24401662
PubMed 23506826
PubMed 14692646
PubMed 16429405
PubMed 23275527
PubMed 24401662
PubMed 24401662
PubMed 23345197
www.ngpd.it
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
Elenco mutazioni NGPD
CM131793
CM131658
CM131659
CM088143
CM113484
CM131776
CM107081
CM131660
CM001605
CM131661
CM112697
CM1211850
CM086758
CM107082
CM116316
CM004459
CM107083
CM131662
CM107084
CM113481
CM133121
CM107085
CM060771
CM107086
CM981878
CM107087
CM050970
CM144443
CM131663
CM107088
CM060773
CM113485
CM113486
CM981879
CM125807
CM125808
CM131664
CM078066
CM147661
CM981880
CM050971
CM144444
CM144505
CM110248
CM060775
BM1276972
CM060769
CM144445
CM131829
CM130656
CM131665
CM994652
CM131781
TGG‐TGT
ATC‐AAC
CGG‐TGG
CAG‐TAG
GAC‐AAC
CAG‐TAG
GAA‐AAA
GAA‐TAA
CGA‐TGA
GTG‐GAG
CGA‐CAA
CGA‐CCA
CGA‐TGA
GAT‐CAT
ACC‐CCC
AAG‐ACG
CTA‐CCA
TGG‐TAG
ATT‐ACT
CAG‐TAG
TGG‐TAG
TGG‐TGA
CGA‐TGA
CAG‐TAG
CAG‐TAG
TGG‐TGA
CGA‐TGA
TGC‐TGA
TGG‐TAG
TGG‐TGA
ACC‐CCC
CAG‐CAT
CAC‐TAC
ACG‐ATG
TGC‐TTC
TCC‐GCC
AGG‐TGG
GAC‐GTC
CAG‐TAG
CGG‐CAG
CGG‐TGG
AGG‐AAG
TGG‐AGG
GTC‐TTC
CGA‐TGA
GCA‐ACA
AAC‐AAG
TGG‐TGA
GCA‐GTA
GAG‐AAG
TGG‐CGG
TGG‐TAG
TGG‐TGA
Trp739Cys
Ile787Asn
Arg797Trp
Gln808Term
Asp812Asn
Gln821Term
Glu824Lys
Glu824Term
Arg836Term
Val839Glu
Arg841Gln
Arg841Pro
Arg841Term
Asp860His
Thr887Pro
Lys889Thr
Leu890Pro
Trp898Term
Ile900Thr
Gln922Term
Trp927Term
Trp927Term
Arg933Term
Gln934Term
Gln953Term
Trp997Term
Arg998Term
Cys1000Term
Trp1036Term
Trp1036Term
Thr1130Pro
Gln1133His
His1134Tyr
Thr1138Met
Cys1174Phe
Ser1185Ala
Arg1186Trp
Asp1193Val
Gln1196Term
Arg1214Gln
Arg1214Trp
Arg1217Lys
Trp1246Arg
Val1249Phe
Arg1250Term
Ala1262Thr
Asn1295Lys
Trp1296Term
Ala1302Val
Glu1323Lys
Trp1338Arg
Trp1338Term
Trp1338Term
2217G>T
2360T>A
2389C>T
2422C>T
2434G>A
2461C>T
2470G>A
2470G>T
2506C>T
2516T>A
2522G>A
2522G>C
2521C>T
2578G>C
2659A>C
2666A>C
2669T>C
2693G>A
2699T>C
2764C>T
2780G>A
2781G>A
2797C>T
2800C>T
2857C>T
2991G>A
2992C>T
3000C>A
3107G>A
3108G>A
3388A>C
3399G>T
3400C>T
3413C>T
3521G>T
3553T>G
3556A>T
3578A>T
3586C>T
3641G>A
3640C>T
3650G>A
3736T>A
3745G>T
3748C>T
3784G>A
3885C>G
3888G>A
3905C>T
3967G>A
4012T>C
4013G>A
4014G>A
W739C
I787N
R797W
Q808*
D812N
Q821*
E824K
E824*
R836*
V839E
R841Q
R841P
R841*
D860H
T887P
K889T
L890P
W898*
I900T
Q922*
W927*
W927*
R933*
Q934*
Q953*
W997*
R998*
C1000*
W1036*
W1036*
T1130P
Q1133H
H1134Y
T1138M
C1174F
S1185A
R1186W
D1193V
Q1196*
R1214Q
R1214W
R1217K
W1246R
V1249F
R1250*
A1262T
N1295K
W1296*
A1302V
E1323K
W1338R
W1338*
W1338*
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Kapoor (2013) Eur J Endocrinol 168:557
Snider (2013) J Clin Endocrinol Metab 98:E355
Snider (2013) J Clin Endocrinol Metab 98:E355
Damaj (2008) J Clin Endocrinol Metab 93:4941
Park (2011) Eur J Endocrinol 164:919
Kapoor (2013) Eur J Endocrinol 168:557
Bellanné‐Chantelot (2010) J Med Genet 47:752
Snider (2013) J Clin Endocrinol Metab 98:E355
Kentrup (2000) J Endocr Genet 1:137
Snider (2013) J Clin Endocrinol Metab 98:E355
Banerjee (2011) Eur J Endocrinol 164:733
Melikyan (2012) Horm Res 78S1:216
Brunetti‐Pierri (2008) Ann Clin Lab Sci 38:386
Bellanné‐Chantelot (2010) J Med Genet 47:752
Macmullen (2011) Diabetes 60:1797
Sharma (2000) Kidney Int 57:803
Bellanné‐Chantelot (2010) J Med Genet 47:752
Snider (2013) J Clin Endocrinol Metab 98:E355
Bellanné‐Chantelot (2010) J Med Genet 47:752
Park (2011) Eur J Endocrinol 164:919
Faletra (2013) Gene 521:160
Bellanné‐Chantelot (2010) J Med Genet 47:752
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Bellanné‐Chantelot (2010) J Med Genet 47:752
Nestorowicz (1998) Hum Mol Genet 7:1119
Bellanné‐Chantelot (2010) J Med Genet 47:752
Suchi (2003) Pediatr Dev Pathol 6:322
Su (2014) Horm Res Paediatr 81:169
Snider (2013) J Clin Endocrinol Metab 98:E355
Bellanné‐Chantelot (2010) J Med Genet 47:752
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Park (2011) Eur J Endocrinol 164:919
Park (2011) Eur J Endocrinol 164:919
Nestorowicz (1998) Hum Mol Genet 7:1119
Ortiz (2012) J Biol Chem 287:17985
Ortiz (2012) J Biol Chem 287:17985
Snider (2013) J Clin Endocrinol Metab 98:E355
Muzyamba (2007) Clin Endocrinol (Oxf) 67:115
Sang (2014) Endocr J epub:epub
Nestorowicz (1998) Hum Mol Genet 7:1119
Stanley (2004) J Clin Endocrinol Metab 89:288
Su (2014) Horm Res Paediatr 81:169
Mohnike (2014) Horm Res Paediatr 81:156
Yorifuji (2011) J Clin Endocrinol Metab 96:E141
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Christesen (2012) Clin Endocrinol (Oxf) 76:548
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Su (2014) Horm Res Paediatr 81:169
Kapoor (2013) Eur J Endocrinol 168:557
Faletra (2013) Gene 516:122
Snider (2013) J Clin Endocrinol Metab 98:E355
Aguilar‐Bryan (1999) Endocr Rev 20:101
Kapoor (2013) Eur J Endocrinol 168:557
PubMed 23345197
PubMed 23275527
PubMed 23275527
PubMed 18796520
PubMed 21422196
PubMed 23345197
PubMed 20685672
PubMed 23275527
PubMed: No PubMed ID
PubMed 23275527
PubMed 21378087
PubMed: No PubMed ID
PubMed 18988933
PubMed 20685672
PubMed 21536946
PubMed 10720932
PubMed 20685672
PubMed 23275527
PubMed 20685672
PubMed 21422196
PubMed 23506826
PubMed 20685672
PubMed 16429405
PubMed 20685672
PubMed 9618169
PubMed 20685672
PubMed 14692646
PubMed 24434300
PubMed 23275527
PubMed 20685672
PubMed 16429405
PubMed 21422196
PubMed 21422196
PubMed 9618169
PubMed 22451668
PubMed 22451668
PubMed 23275527
PubMed 17466004
PubMed 25008049
PubMed 9618169
PubMed 14715863
PubMed 24434300
PubMed 24401662
PubMed 20943781
PubMed 16429405
PubMed 21981106
PubMed 16429405
PubMed 24434300
PubMed 23345197
PubMed 23266803
PubMed 23275527
PubMed 10204114
PubMed 23345197
www.ngpd.it
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
Elenco mutazioni NGPD
CM131777
CM043251
CM062383
CM042667
CM981882
CM116631
CM112696
CM107089
CM1111099
CM131821
CM083468
CM107090
CM981883
CM1310049
CM981884
CM107091
CM116317
CM073992
CM116318
CM107092
CM112694
CM073988
CM107093
CM144446
CM981885
CM130657
CM110247
CM063819
CM144515
CM144516
CM107094
CM068331
CM107095
CM043738
CM144517
CM981886
CM144518
CM107096
CM107097
CM131830
CM107098
CM060779
CM107099
CM011260
CM107100
CM116373
CM131666
CM004460
CM050972
CM083471
CM131824
CM131667
CM107101
CAA‐TAA
GGG‐GAG
CTG‐CAG
CGC‐CAC
CGC‐CCC
CCG‐CGG
CCG‐CTG
CAC‐CAG
GCC‐GAC
CAG‐TAG
AAG‐AGG
GGG‐AGG
GGC‐CGC
GGC‐AGC
GGC‐AGC
GGG‐AGG
GGG‐GAG
TCC‐CCC
TCC‐TAC
TCT‐TAT
CTT‐CGT
CTT‐CCT
TTC‐ATC
TTC‐TTG
CGC‐CAC
ATG‐AGG
GAC‐TAC
GGG‐AGG
ATC‐ATG
ATT‐ACT
ATC‐TTC
CCG‐CTG
CGC‐TGC
CGC‐CAC
CGC‐CTC
CGC‐TGC
GTC‐GCC
GGC‐AGC
CGA‐GGA
GAG‐GAC
CTG‐CGG
CTG‐CCG
GCC‐CCC
GCC‐ACC
GCC‐GTC
CAG‐CAC
CTG‐CGG
GAT‐AAT
GAT‐CAT
GGC‐GTC
GGG‐GCG
GGG‐GAG
AAT‐ATT
Gln1341Term
Gly1342Glu
Leu1349Gln
Arg1352His
Arg1352Pro
Pro1359Arg
Pro1359Leu
His1363Gln
Ala1366Asp
Gln1372Term
Lys1373Arg
Gly1375Arg
Gly1378Arg
Gly1378Ser
Gly1381Ser
Gly1383Arg
Gly1383Glu
Ser1385Pro
Ser1386Tyr
Ser1388Tyr
Leu1389Arg
Leu1389Pro
Phe1392Ile
Phe1392Leu
Arg1393His
Met1394Arg
Asp1396Tyr
Gly1400Arg
Ile1403Met
Ile1404Thr
Ile1409Phe
Pro1413Leu
Arg1418Cys
Arg1418His
Arg1418Leu
Arg1420Cys
Val1429Ala
Gly1433Ser
Arg1436Gly
Glu1442Asp
Leu1450Arg
Leu1450Pro
Ala1457Pro
Ala1457Thr
Ala1457Val
Gln1458His
Leu1459Arg
Asp1471Asn
Asp1471His
Gly1477Val
Gly1478Ala
Gly1478Glu
Asn1480Ile
4021C>T
4025G>A
4046T>A
4055G>A
4055G>C
4076C>G
4076C>T
4089C>G
4097C>A
4114C>T
4118A>G
4123G>A
4132G>C
4132G>A
4141G>A
4147G>A
4148G>A
4153T>C
4157C>A
4163C>A
4166T>G
4166T>C
4174T>A
4176C>G
4178G>A
4181T>G
4186G>T
4198G>A
4209C>G
4211T>C
4225A>T
4238C>T
4252C>T
4253G>A
4253G>T
4258C>T
4286T>C
4297G>A
4306C>G
4326G>C
4349T>G
4349T>C
4369G>C
4369G>A
4370C>T
4374G>C
4376T>G
4411G>A
4411G>C
4430G>T
4433G>C
4433G>A
4439A>T
Q1341*
G1342E
L1349Q
R1352H
R1352P
P1359R
P1359L
H1363Q
A1366D
Q1372*
K1373R
G1375R
G1378R
G1378S
G1381S
G1383R
G1383E
S1385P
S1386Y
S1388Y
L1389R
L1389P
F1392I
F1392L
R1393H
M1394R
D1396Y
G1400R
I1403M
I1404T
I1409F
P1413L
R1418C
R1418H
R1418L
R1420C
V1429A
G1433S
R1436G
E1442D
L1450R
L1450P
A1457P
A1457T
A1457V
Q1458H
L1459R
D1471N
D1471H
G1477V
G1478A
G1478E
N1480I
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Kapoor (2013) Eur J Endocrinol 168:557
Tornovsky (2004) J Clin Endocrinol Metab 89:6224
Stanley (2004) J Clin Endocrinol Metab 89:288
Magge (2004) J Clin Endocrinol Metab 89:4450
Verkarre (1998) J Clin Invest 102:1286
Verheul (2011) Ned Tijdschr Geneeskd 155:A3343
Banerjee (2011) Eur J Endocrinol 164:733
Bellanné‐Chantelot (2010) J Med Genet 47:752
Oçal (2011) J Pediatr Endocrinol Metab 24:1019
Kapoor (2013) Eur J Endocrinol 168:557
Pinney (2008) J Clin Invest 118:2877
Bellanné‐Chantelot (2010) J Med Genet 47:752
Nestorowicz (1998) Hum Mol Genet 7:1119
Dung (2013) Int J Pediatr Endocrinol 2013S1:P179
Nestorowicz (1998) Hum Mol Genet 7:1119
Bellanné‐Chantelot (2010) J Med Genet 47:752
Macmullen (2011) Diabetes 60:1797
Natarajan (2007) Am J Perinatol 24:401
Macmullen (2011) Diabetes 60:1797
Bellanné‐Chantelot (2010) J Med Genet 47:752
Banerjee (2011) Eur J Endocrinol 164:733
Yan (2007) Diabetes 56:2339
Bellanné‐Chantelot (2010) J Med Genet 47:752
Su (2014) Horm Res Paediatr 81:169
Nestorowicz (1998) Hum Mol Genet 7:1119
Faletra (2013) Gene 516:122
Yorifuji (2011) J Clin Endocrinol Metab 96:E141
Suchi (2006) Mod Pathol 19:122
Mohnike (2014) Horm Res Paediatr 81:156
Mohnike (2014) Horm Res Paediatr 81:156
Bellanné‐Chantelot (2010) J Med Genet 47:752
Giurgea (2006) J Clin Endocrinol Metab 91:4118
Bellanné‐Chantelot (2010) J Med Genet 47:752
Tornovsky (2004) J Clin Endocrinol Metab 89:6224
Mohnike (2014) Horm Res Paediatr 81:156
Verkarre (1998) J Clin Invest 102:1286
Mohnike (2014) Horm Res Paediatr 81:156
Bellanné‐Chantelot (2010) J Med Genet 47:752
Bellanné‐Chantelot (2010) J Med Genet 47:752
Kapoor (2013) Eur J Endocrinol 168:557
Bellanné‐Chantelot (2010) J Med Genet 47:752
Fernandez‐Marmiesse (2006) Hum Mutat 27:214
Bellanné‐Chantelot (2010) J Med Genet 47:752
Huopio (2002) J Clin Endocrinol Metab 87:4502
Bellanné‐Chantelot (2010) J Med Genet 47:752
Macmullen (2011) Diabetes 60:1797
Snider (2013) J Clin Endocrinol Metab 98:E355
Sharma (2000) Kidney Int 57:803
Stanley (2004) J Clin Endocrinol Metab 89:288
Pinney (2008) J Clin Invest 118:2877
Kapoor (2013) Eur J Endocrinol 168:557
Snider (2013) J Clin Endocrinol Metab 98:E355
Bellanné‐Chantelot (2010) J Med Genet 47:752
PubMed 23345197
PubMed 15579781
PubMed 14715863
PubMed 15356046
PubMed 9769320
PubMed 21835061
PubMed 21378087
PubMed 20685672
PubMed 22308858
PubMed 23345197
PubMed 18596924
PubMed 20685672
PubMed 9618169
PubMed: No PubMed ID
PubMed 9618169
PubMed 20685672
PubMed 21536946
PubMed 17597441
PubMed 21536946
PubMed 20685672
PubMed 21378087
PubMed 17575084
PubMed 20685672
PubMed 24434300
PubMed 9618169
PubMed 23266803
PubMed 20943781
PubMed 16357843
PubMed 24401662
PubMed 24401662
PubMed 20685672
PubMed 16882742
PubMed 20685672
PubMed 15579781
PubMed 24401662
PubMed 9769320
PubMed 24401662
PubMed 20685672
PubMed 20685672
PubMed 23345197
PubMed 20685672
PubMed 16429405
PubMed 20685672
PubMed 12364426
PubMed 20685672
PubMed 21536946
PubMed 23275527
PubMed 10720932
PubMed 14715863
PubMed 18596924
PubMed 23345197
PubMed 23275527
PubMed 20685672
www.ngpd.it
Elenco mutazioni NGPD
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
ABCC8
CM131811
CM144519
CM131784
HM971605
CM981887
CM107102
CM147662
CM083469
CM112693
CM116319
CM131668
CM083470
CM032822
AGC‐AGA
GGA‐AGA
CAG‐TAG
CGG‐CAG
CGG‐TGG
GAC‐GAG
GAC‐CAC
ATT‐ACT
ACG‐ATG
GAA‐AAA
ACC‐CCC
CGA‐CAA
GTC‐GAC
Ser1482Arg
Gly1484Arg
Gln1487Term
Arg1493Gln
Arg1493Trp
Asp1505Glu
Asp1505His
Ile1511Thr
Thr1515Met
Glu1516Lys
Thr1534Pro
Arg1538Gln
Val1550Asp
4446C>A
4450G>A
4459C>T
4478G>A
4477C>T
4515C>G
4513G>C
4532T>C
4544C>T
4546G>A
4600A>C
4613G>A
4649T>A
S1482R
G1484R
Q1487*
R1493Q
R1493W
D1505E
D1505H
I1511T
T1515M
E1516K
T1534P
R1538Q
V1550D
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Kapoor (2013) Eur J Endocrinol 168:557
Mohnike (2014) Horm Res Paediatr 81:156
Kapoor (2013) Eur J Endocrinol 168:557
Glaser (1999) Diabetes 48:1652
Verkarre (1998) J Clin Invest 102:1286
Bellanné‐Chantelot (2010) J Med Genet 47:752
Sang (2014) Endocr J epub:epub
Pinney (2008) J Clin Invest 118:2877
Banerjee (2011) Eur J Endocrinol 164:733
Macmullen (2011) Diabetes 60:1797
Snider (2013) J Clin Endocrinol Metab 98:E355
Pinney (2008) J Clin Invest 118:2877
Huopio (2002) J Clin Endocrinol Metab 87:4502
PubMed 23345197
PubMed 24401662
PubMed 23345197
PubMed 10426386
PubMed 9769320
PubMed 20685672
PubMed 25008049
PubMed 18596924
PubMed 21378087
PubMed 21536946
PubMed 23275527
PubMed 18596924
PubMed 12364426
ABCC8
ABCC8
CM032823
CM016039
CTG‐GTG
GGT‐AGT
Leu1551Val
Gly1554Ser
4651C>G
4660G>A
L1551V
G1554S
Hyperinsulinism
Hyperinsulinism
Huopio (2002) J Clin Endocrinol Metab 87:4502
Fournet (2001) Am J Pathol 158:2177
PubMed 12364426
PubMed 11395395
ABCC8
ABCC8
CM131669
CM133126
AAG‐TAG
CCA‐GCA
Lys1561Term
Pro1562Ala
4681A>T
4684C>G
K1561*
P1562A
Snider (2013) J Clin Endocrinol Metab 98:E355
Faletra (2013) Gene 521:160
PubMed 23275527
PubMed 23506826
ABCC8
CM073982
ATG‐GTG
Met1Val
1A>G
M1V
Greer (2007) Pediatr Dev Pathol 10:25
PubMed 17378627
ABCC8
CM073981
ATG‐AGG
Met80Arg
239T>G
M80R
Greer (2007) Pediatr Dev Pathol 10:25
PubMed 17378627
ABCC8
CM068330
GGC‐GAC
Gly92Asp
275G>A
G92D
Otonkoski (2006) Diabetes 55:13
PubMed 16380471
ABCC8
CM068329
GCG‐GTG
Ala113Val
338C>T
A113V
Otonkoski (2006) Diabetes 55:13
PubMed 16380471
ABCC8
CM073978
CGC‐TGC
Arg168Cys
502C>T
R168C
Greer (2007) Pediatr Dev Pathol 10:25
PubMed 17378627
ABCC8
CM073991
GGC‐GAC
Gly228Asp
683G>A
G228D
Greer (2007) Pediatr Dev Pathol 10:25
PubMed 17378627
ABCC8
CM092535
TGG‐CGG
Trp231Arg
691T>C
W231R
Sandal (2009) Clin Genet 75:440
PubMed 19475716
ABCC8
CM092536
TGC‐TGA
Cys267Term
801C>A
C267*
Sandal (2009) Clin Genet 75:440
PubMed 19475716
ABCC8
CM092537
ATT‐GTT
Ile462Val
1384A>G
I462V
Sandal (2009) Clin Genet 75:440
PubMed 19475716
ABCC8
CM092538
CAG‐TAG
Gln917Term
2749C>T
Q917*
Sandal (2009) Clin Genet 75:440
PubMed 19475716
ABCC8
CM077909
GAG‐TAG
Glu945Term
2833G>T
E945*
Greer (2007) Pediatr Dev Pathol 10:25
PubMed 17378627
ABCC8
CM077911
GAT‐CAT
Asp1405His
4213G>C
D1405H
Greer (2007) Pediatr Dev Pathol 10:25
PubMed 17378627
ABCC8
CM112832
CGA‐TGA
Arg1436Term
4306C>T
R1436*
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of yp infancy
Powell (2011) Diabetes 60:1223
PubMed 21411514
ABCC8
CM136227
CCT‐GCT
Pro1441Ala
4321C>G
P1441A
Sogno Valin (2013) Horm Res Paediatr 79:236
PubMed 23652837
ABCC8
CM011261
GGG‐AGG
Gly1478Arg
4432G>A
G1478R
Sandal (2009) Clin Genet 75:440
PubMed 19475716
ABCC8
CM077910
CTC‐CCC
Leu1519Pro
4556T>C
L1519P
Greer (2007) Pediatr Dev Pathol 10:25
PubMed 17378627
ABCC8
ABCC8
CM092539
CM136226
ACT‐GCT
GGT‐GAT
Thr1531Ala
Gly1554Asp
4591A>G
4661G>A
T1531A
G1554D
Sandal (2009) Clin Genet 75:440
Sogno Valin (2013) Horm Res Paediatr 79:236
PubMed 19475716
PubMed 23652837
ABCC8
CM118109
AGG‐GGG
Arg1186Gly
3556A>G
R1186G
Henquin (2011) J Clin Invest 121:3932
PubMed 21968111
ABCC8
CM118103
AGC‐AAC
Ser606Asn
1817G>A
S606N
infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
infancy
Hyperinsulinism, diffuse congenital
Hyperinsulinism, focal congenital
Henquin (2011) J Clin Invest 121:3932
PubMed 21968111
www.ngpd.it
Elenco mutazioni NGPD
ABCC8
CM118104
TGG‐CGG
Trp1451Arg
4351T>C
W1451R
ABCC8
CM118105
GAG‐GAT
Glu1452Asp
4356G>T
E1452D
ABCC8
CM118106
GGC‐GTC
Gly1469Val
4406G>T
G1469V
ADAMTS2
CM993490
CAG‐TAG
Gln225Term
673C>T
Q225*
ADAMTS2
AHI1
AHI1
AHI1
CM993491
CM060812
CM060809
CM080032
TGG‐TAG
TCA‐TGA
AAA‐TAA
CGA‐TGA
Trp795Term
Ser221Term
Lys246Term
Arg329Term
2384G>A
662C>G
736A>T
985C>T
W795*
S221*
K246*
R329*
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
CM074672
CM042284
CM060813
CM060801
CM042285
CM042286
CM118186
CM060810
CM060802
CM060811
CM060803
CM060808
CM060807
CM060804
CM060806
GAT‐GGT
CGA‐TGA
TGG‐TAG
CAA‐TAA
CGA‐TGA
GTC‐GAC
CGC‐CAC
TAC‐TAA
CGA‐TGA
TAT‐TAA
ACT‐ATT
GAT‐GGT
CGG‐CAG
TGG‐CGG
CGA‐TGA
Asp330Gly
Arg351Term
Trp420Term
Gln423Term
Arg435Term
Val443Asp
Arg495His
Tyr500Term
Arg589Term
Tyr639Term
Thr671Ile
Asp719Gly
Arg723Gln
Trp725Arg
Arg738Term
989A>G
1051C>T
1259G>A
1267C>T
1303C>T
1328T>A
1484G>A
1500C>A
1765C>T
1917T>A
2012C>T
2156A>G
2168G>A
2173T>C
2212C>T
D330G
R351*
W420*
Q423*
R435*
V443D
R495H
Y500*
R589*
Y639*
T671I
D719G
R723Q
W725R
R738*
AHI1
AHI1
AHI1
AHI1
AHI1
AHI1
ARL13B
ARL13B
ARL13B
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
CM074671
CM060814
CM110640
CM060805
CM112365
CM080033
CM085246
CM085247
CM085245
CM100918
CM063852
CM960084
CM067343
CM001608
CM023602
CM960085
CM127193
CM001609
CM023603
CM100919
CM060201
CM126484
CM990192
CM960086
CGG‐TGG
TTA‐TGA
CGA‐TGA
CAT‐CGT
GAA‐TAA
GAA‐GGA
CGG‐CAG
TGG‐TGA
CGC‐TGC
ATG‐ACG
GTT‐GGT
ATC‐ACC
GGA‐AGA
CAT‐CCT
GAG‐GGG
GGA‐AGA
AAC‐AAA
GCA‐ACA
GAC‐GCC
AAT‐AGT
CGC‐CAC
TAT‐TAA
TAT‐TAG
GAC‐GAA
Arg830Trp
Leu832Term
Arg891Term
His896Arg
Glu984Term
Glu1086Gly
Arg79Gln
Trp82Term
Arg200Cys
Met1Thr
Val14Gly
Ile16Thr
Gly18Arg
His21Pro
Glu24Gly
Gly27Arg
Asn54Lys
Ala57Thr
Asp68Ala
Asn70Ser
Arg71His
Tyr88Term
Tyr109Term
Asp114Glu
2488C>T
2495T>G
2671C>T
2687A>G
2950G>T
3257A>G
236G>A
246G>A
598C>T
2T>C
41T>G
47T>C
52G>A
62A>C
71A>G
79G>A
162C>A
169G>A
203A>C
209A>G
212G>A
264T>A
327T>G
342C>A
R830W
L832*
R891*
H896R
E984*
E1086G
R79Q
W82*
R200C
M1T
V14G
I16T
G18R
H21P
E24G
G27R
N54K
A57T
D68A
N70S
R71H
Y88*
Y109*
D114E
Hyperinsulinism, focal congenital
Hyperinsulinism, focal congenital
Hyperinsulinism, focal congenital
Ehlers‐Danlos syndrome VIIc
Ehlers‐Danlos syndrome VIIc
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome, modifier of
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome, modifier of
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Henquin (2011) J Clin Invest 121:3932
PubMed 21968111
Henquin (2011) J Clin Invest 121:3932
PubMed 21968111
Henquin (2011) J Clin Invest 121:3932
PubMed 21968111
Collige (1999) Am J Hum Genet 65:308
PubMed 10417273
Collige (1999) Am J Hum Genet 65:308
Valente (2006) Ann Neurol 59:527
Parisi (2006) J Med Genet 43:334
Kroes (2008) Eur J Med Genet 51:24
PubMed 10417273
PubMed 16453322
PubMed 16155189
PubMed 18054307
Tory (2007) J Am Soc Nephrol 18:1566
Ferland (2004) Nat Genet 36:1008
Parisi (2006) J Med Genet 43:334
Valente (2006) Ann Neurol 59:527
Ferland (2004) Nat Genet 36:1008
Ferland (2004) Nat Genet 36:1008
Najmabadi (2011) Nature 478:57
Valente (2006) Ann Neurol 59:527
Valente (2006) Ann Neurol 59:527
Parisi (2006) J Med Genet 43:334
Parisi (2006) J Med Genet 43:334
Parisi (2006) J Med Genet 43:334
Valente (2006) Ann Neurol 59:527
Parisi (2006) J Med Genet 43:334
Valente (2006) Ann Neurol 59:527
PubMed 17409309
PubMed 15322546
PubMed 16155189
PubMed 16453322
PubMed 15322546
PubMed 15322546
PubMed 21937992
PubMed 16453322
PubMed 16453322
PubMed 16155189
PubMed 16155189
PubMed 16155189
PubMed 16453322
PubMed 16155189
PubMed 16453322
Tory (2007) J Am Soc Nephrol 18:1566
Parisi (2006) J Med Genet 43:334
Otto (2011) J Med Genet 48:105
Parisi (2006) J Med Genet 43:334
Bell (2011) Sci Transl Med 3:65ra4
Kroes (2008) Eur J Med Genet 51:24
Cantagrel (2008) Am J Hum Genet 83:170
Cantagrel (2008) Am J Hum Genet 83:170
Cantagrel (2008) Am J Hum Genet 83:170
Zhang (2010) Brain Dev 32:879
Zeng (2006) Mol Genet Metab 89:156
Kaul (1996) Am J Hum Genet 59:95
Zeng (2006) Adv Exp Med Biol 576:165
Sistermans (2000) Eur J Hum Genet 8:557
Zeng (2002) J Inherit Metab Dis 25:557
Kaul (1996) Am J Hum Genet 59:95
Howell (2004) J Inherit Metab Dis 27:289
Sistermans (2000) Eur J Hum Genet 8:557
Zeng (2002) J Inherit Metab Dis 25:557
Zhang (2010) Brain Dev 32:879
Janson (2006) Ann Neurol 59:428
Durmaz (2012) Fetal Pediatr Pathol 31:236
Elpeleg (1999) J Inherit Metab Dis 22:531
Kaul (1996) Am J Hum Genet 59:95
PubMed 17409309
PubMed 16155189
PubMed 21068128
PubMed 16155189
PubMed 21228398
PubMed 18054307
PubMed 18674751
PubMed 18674751
PubMed 18674751
PubMed 20129749
PubMed 16854607
PubMed 8659549
PubMed 16802711
PubMed 10909858
PubMed 12638939
PubMed 8659549
PubMed 15243987
PubMed 10909858
PubMed 12638939
PubMed 20129749
PubMed 16437572
PubMed 22468686
PubMed 10407784
PubMed 8659549
www.ngpd.it
Elenco mutazioni NGPD
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
ASPA
CM023014
CM063846
CM960087
CM063849
CM980125
CM950102
CM023604
CM960088
CM063847
CM960089
CM001610
CM138792
CM063850
CM001611
CM990193
CM023605
CM990194
CM990195
CM055097
CM023606
CM950103
CM086530
CM994594
CM940123
CM127191
CM023607
CM063848
CM023015
CM127076
CM063851
CM950104
CM990196
CM990197
CM930046
CM990198
CM034717
CM950105
CM127192
CM940124
CM023608
GAC‐TAC
AAC‐ATC
GGG‐GAG
ATT‐TTT
ATT‐ACT
TGC‐CGC
TGC‐TGG
TGC‐TAC
ACC‐ATC
CGT‐TGT
CGT‐CAT
ATA‐ACA
CCT‐CTT
CCT‐ACT
CCT‐CAT
CAA‐TAA
GTT‐TTT
ATG‐AGG
AAA‐GAA
GAA‐TAA
TGC‐TGA
ATA‐ACA
TAC‐TGC
TAC‐TAA
ATC‐AGC
CAT‐CGT
CAT‐CTT
GAT‐GTT
CCT‐CGT
CTG‐CCG
GGA‐AGA
CCC‐CTC
CCC‐TCC
GAG‐GCG
GCA‐ACA
TAT‐TGT
TTT‐TCT
CTA‐CCA
GCA‐GAA
TAG‐TGG
Asp114Tyr
Asn121Ile
Gly123Glu
Ile143Phe
Ile143Thr
Cys152Arg
Cys152Trp
Cys152Tyr
Thr166Ile
Arg168Cys
Arg168His
Ile177Thr
Pro181Leu
Pro181Thr
Pro183His
Gln184Term
Val186Phe
Met195Arg
Lys213Glu
Glu214Term
Cys218Term
Ile226Thr
Tyr231Cys
Tyr231Term
Ile243Ser
His244Arg
His244Leu
Asp249Val
Pro257Arg
Leu272Pro
Gly274Arg
Pro280Leu
Pro280Ser
Glu285Ala
Ala287Thr
Tyr288Cys
Phe295Ser
Leu301Pro
Ala305Glu
Term314Trp
340G>T
362A>T
368G>A
427A>T
428T>C
454T>C
456C>G
455G>A
497C>T
502C>T
503G>A
530T>C
542C>T
541C>A
548C>A
550C>T
556G>T
584T>G
637A>G
640G>T
654C>A
677T>C
692A>G
693C>A
728T>G
731A>G
731A>T
746A>T
770C>G
815T>C
820G>A
839C>T
838C>T
854A>C
859G>A
863A>G
884T>C
902T>C
914C>A
941A>G
D114Y
N121I
G123E
I143F
I143T
C152R
C152W
C152Y
T166I
R168C
R168H
I177T
P181L
P181T
P183H
Q184*
V186F
M195R
K213E
E214*
C218*
I226T
Y231C
Y231*
I243S
H244R
H244L
D249V
P257R
L272P
G274R
P280L
P280S
E285A
A287T
Y288C
F295S
L301P
A305E
*314W
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Canavan disease
Olsen (2002) J Med Genet 39:e55
Zeng (2006) Mol Genet Metab 89:156
Kaul (1996) Am J Hum Genet 59:95
Zeng (2006) Mol Genet Metab 89:156
Kobayashi (1998) Hum Mutat S1:S308
Kaul (1995) Hum Mutat 5:269
Zeng (2002) J Inherit Metab Dis 25:557
Kaul (1996) Am J Hum Genet 59:95
Zeng (2006) Mol Genet Metab 89:156
Kaul (1996) Am J Hum Genet 59:95
Sistermans (2000) Eur J Hum Genet 8:557
Di Pietro (2013) Clin Biochem 46:1902
Zeng (2006) Mol Genet Metab 89:156
Sistermans (2000) Eur J Hum Genet 8:557
Elpeleg (1999) J Inherit Metab Dis 22:531
Zeng (2002) J Inherit Metab Dis 25:557
Elpeleg (1999) J Inherit Metab Dis 22:531
Elpeleg (1999) J Inherit Metab Dis 22:531
Tacke (2005) Neuropediatrics 36:252
Zeng (2002) J Inherit Metab Dis 25:557
Shaag (1995) Am J Hum Genet 57:572
Di Pietro (2008) Clin Biochem 41:611
Rady (1999) Am J Med Genet 87:273
Kaul (1994) Am J Hum Genet 55:34
Bijarnia (2013) Indian J Pediatr 80:26
Zeng (2002) J Inherit Metab Dis 25:557
Zeng (2006) Mol Genet Metab 89:156
Olsen (2002) J Med Genet 39:e55
Zano (2013) J Inherit Metab Dis 36:1
Zeng (2006) Mol Genet Metab 89:156
Shaag (1995) Am J Hum Genet 57:572
Elpeleg (1999) J Inherit Metab Dis 22:531
Elpeleg (1999) J Inherit Metab Dis 22:531
Kaul (1993) Nat Genet 5:118
Elpeleg (1999) J Inherit Metab Dis 22:531
Surendran (2003) Mol Genet Metab 80:74
Shaag (1995) Am J Hum Genet 57:572
Bijarnia (2013) Indian J Pediatr 80:26
Kaul (1994) Am J Hum Genet 55:34
Zeng (2002) J Inherit Metab Dis 25:557
PubMed 12205125
PubMed 16854607
PubMed 8659549
PubMed 16854607
PubMed 9452117
PubMed 7599639
PubMed 12638939
PubMed 8659549
PubMed 16854607
PubMed 8659549
PubMed 10909858
PubMed 24036223
PubMed 16854607
PubMed 10909858
PubMed 10407784
PubMed 12638939
PubMed 10407784
PubMed 10407784
PubMed 16138249
PubMed 12638939
PubMed 7668285
PubMed 18280251
PubMed 10564886
PubMed 8023850
PubMed 22878930
PubMed 12638939
PubMed 16854607
PubMed 12205125
PubMed 22850825
PubMed 16854607
PubMed 7668285
PubMed 10407784
PubMed 10407784
PubMed 8252036
PubMed 10407784
PubMed 14567959
PubMed 7668285
PubMed 22878930
PubMed 8023850
PubMed 12638939
ASPM
CM032839
CGA‐TGA
Arg117Term
349C>T
R117*
Primary microcephaly
Bond (2003) Am J Hum Genet 73:1170
PubMed 14574646
ASPM
CM091955
CAA‐TAA
Gln193Term
577C>T
Q193*
Primary microcephaly
Nicholas (2009) J Med Genet 46:249
PubMed 19028728
ASPM
CM142036
CAG‐TAG
Gln380Term
1138C>T
Q380*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM091956
GAA‐TAA
Glu456Term
1366G>T
E456*
Primary microcephaly
Nicholas (2009) J Med Genet 46:249
PubMed 19028728
ASPM
CM032840
CAG‐TAG
Gln664Term
1990C>T
Q664*
Primary microcephaly
Bond (2003) Am J Hum Genet 73:1170
PubMed 14574646
ASPM
CM096298
CAG‐TAG
Gln701Term
2101C>T
Q701*
Primary microcephaly
Kousar (2009) J Child Neurol :
PubMed 19808985
ASPM
CM095686
CGA‐TGA
Arg797Term
2389C>T
R797*
Primary microcephaly
Passemard (2009) Neurology 73:962
PubMed 19770472
www.ngpd.it
Elenco mutazioni NGPD
ASPM
CM142038
TGG‐TGA
Trp857Term
2571G>A
W857*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM142033
CGA‐TGA
Arg931Term
2791C>T
R931*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM092391
CGA‐TGA
Arg980Term
2938C>T
R980*
Primary microcephaly
Muhammad (2009) Am J Med Genet A 149A:926
PubMed 19353628
ASPM
CM091957
TGG‐TGA
Trp989Term
2967G>A
W989*
Primary microcephaly
Nicholas (2009) J Med Genet 46:249
PubMed 19028728
ASPM
CM091958
CGA‐TGA
Arg1019Term
3055C>T
R1019*
Primary microcephaly
Nicholas (2009) J Med Genet 46:249
PubMed 19028728
ASPM
CM091959
TTA‐TGA
Leu1063Term
3188T>G
L1063*
Primary microcephaly
Nicholas (2009) J Med Genet 46:249
PubMed 19028728
ASPM
CM142027
TAT‐TAG
Tyr1109Term
3327T>G
Y1109*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM032841
TCA‐TGA
Ser1176Term
3527C>G
S1176*
Primary microcephaly
Bond (2003) Am J Hum Genet 73:1170
PubMed 14574646
ASPM
CM091960
TCA‐TGA
Ser1237Term
3710C>G
S1237*
Primary microcephaly
Nicholas (2009) J Med Genet 46:249
PubMed 19028728
ASPM
CM091961
GAA‐TAA
Glu1266Term
3796G>T
E1266*
Primary microcephaly
Nicholas (2009) J Med Genet 46:249
PubMed 19028728
ASPM
CM032842
CGA‐TGA
Arg1271Term
3811C>T
R1271*
Primary microcephaly
Bond (2003) Am J Hum Genet 73:1170
PubMed 14574646
ASPM
CM107070
TGG‐TAG
Trp1326Term
3977G>A
W1326*
Primary microcephaly
Halsall (2010) J Med Genet 47:769
PubMed 20679666
ASPM
CM042938
TGG‐TGA
Trp1326Term
3978G>A
W1326*
Primary microcephaly
Kumar (2004) Clin Genet 66:341
PubMed 15355437
ASPM
CM133216
CGA‐TGA
Arg1327Term
3979C>T
R1327*
Primary microcephaly
Sajid Hussain (2013) Clin Genet 83:446
PubMed 22775483
ASPM
CM095687
TGG‐TGA
Trp1358Term
4074G>A
W1358*
Primary microcephaly
Passemard (2009) Neurology 73:962
PubMed 19770472
ASPM
CM107072
TGG‐TAG
Trp1395Term
4184G>A
W1395*
Primary microcephaly
Halsall (2010) J Med Genet 47:769
PubMed 20679666
ASPM
CM032843
CGA‐TGA
Arg1599Term
4795C>T
R1599*
Primary microcephaly
Bond (2003) Am J Hum Genet 73:1170
PubMed 14574646
ASPM
CM133317
CGA‐TGA
Arg1617Term
4849C>T
R1617*
Primary microcephaly
Papari (2013) Clin Genet 83:488
PubMed 22989186
ASPM
CM077229
TAC‐TAA
Tyr1712Term
5136C>A
Y1712*
Primary microcephaly
Gul (2007) J Neurogenet 21:153
PubMed 17849285
ASPM
CM107948
GAA‐TAA
Glu1730Term
5188G>T
E1730*
Primary microcephaly
Darvish (2010) J Med Genet 47:823
PubMed 20978018
ASPM
CM142030
TGT‐TGA
Cys1732Term
5196T>A
C1732*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM107951
AAG‐CAG
Lys1862Gln
5584A>C
K1862Q
Primary microcephaly
Darvish (2010) J Med Genet 47:823
PubMed 20978018
ASPM
CM133218
AAG‐GAG
Lys1862Glu
5584A>G
K1862E
Primary microcephaly
Sajid Hussain (2013) Clin Genet 83:446
PubMed 22775483
ASPM
CM133217
CAG‐TAG
Gln2051Term
6151C>T
Q2051*
Primary microcephaly
Sajid Hussain (2013) Clin Genet 83:446
PubMed 22775483
ASPM
CM053095
TAT‐TAG
Tyr2063Term
6189T>G
Y2063*
Primary microcephaly
Shen (2005) J Med Genet 42:725
PubMed 16141009
ASPM
CM095684
CGA‐TGA
Arg2078Term
6232C>T
R2078*
Primary microcephaly
Passemard (2009) Neurology 73:962
PubMed 19770472
ASPM
CM107071
CGA‐TGA
Arg2332Term
6994C>T
R2332*
Primary microcephaly
Halsall (2010) J Med Genet 47:769
PubMed 20679666
ASPM
CM142032
CAG‐TAG
Gln2538Term
7612C>T
Q2538*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM022323
TAT‐TAG
Tyr2587Term
7761T>G
Y2587*
Primary microcephaly
Bond (2002) Nat Genet 32:316
PubMed 12355089
ASPM
CM142034
CAG‐TAG
Gln2609Term
7825C>T
Q2609*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
www.ngpd.it
Elenco mutazioni NGPD
ASPM
CM092389
CAG‐TAG
Gln2632Term
7894C>T
Q2632*
Primary microcephaly
Muhammad (2009) Am J Med Genet A 149A:926
PubMed 19353628
ASPM
CM142029
CAG‐TAG
Gln2673Term
8017C>T
Q2673*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM095685
TTG‐TAG
Leu2758Term
8273T>A
L2758*
Primary microcephaly
Passemard (2009) Neurology 73:962
PubMed 19770472
ASPM
CM092390
CAA‐TAA
Gln2890Term
8668C>T
Q2890*
Primary microcephaly
Muhammad (2009) Am J Med Genet A 149A:926
PubMed 19353628
ASPM
CM142037
TGG‐TAG
Trp2968Term
8903G>A
W2968*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM107949
CGA‐TGA
Arg3031Term
9091C>T
R3031*
Primary microcephaly
Darvish (2010) J Med Genet 47:823
PubMed 20978018
ASPM
CM142035
TTG‐TAG
Leu3035Term
9104T>A
L3035*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM042939
CAA‐TAA
Gln3060Term
9178C>T
Q3060*
Primary microcephaly
Kumar (2004) Clin Genet 66:341
PubMed 15355437
ASPM
CM032844
CGA‐TGA
Arg3064Term
9190C>T
R3064*
Primary microcephaly
Bond (2003) Am J Hum Genet 73:1170
PubMed 14574646
ASPM
CM066734
AAA‐TAA
Lys3080Term
9238A>T
K3080*
Primary microcephaly
Gul (2006) Neurogenetics 7:105
PubMed 16673149
ASPM
CM107947
CGA‐TGA
Arg3096Term
9286C>T
R3096*
Primary microcephaly
Darvish (2010) J Med Genet 47:823
PubMed 20978018
ASPM
CM092387
CGA‐TGA
Arg3107Term
9319C>T
R3107*
Primary microcephaly
Muhammad (2009) Am J Med Genet A 149A:926
PubMed 19353628
ASPM
CM142031
CGA‐TGA
Arg3152Term
9454C>T
R3152*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM092388
TAT‐TAG
Tyr3164Term
9492T>G
Y3164*
Primary microcephaly
Muhammad (2009) Am J Med Genet A 149A:926
PubMed 19353628
ASPM
CM066733
CAG‐CCG
Gln3180Pro
9539A>C
Q3180P
Primary microcephaly
Gul (2006) Neurogenetics 7:105
PubMed 16673149
ASPM
CM032845
TCA‐TGA
Ser3186Term
9557C>G
S3186*
Primary microcephaly
Bond (2003) Am J Hum Genet 73:1170
PubMed 14574646
ASPM
CM092392
AAA‐TAA
Lys3199Term
9595A>T
K3199*
Primary microcephaly
Muhammad (2009) Am J Med Genet A 149A:926
PubMed 19353628
ASPM
CM092386
CGA‐TGA
Arg3233Term
9697C>T
R3233*
Primary microcephaly
Muhammad (2009) Am J Med Genet A 149A:926
PubMed 19353628
ASPM
CM077231
CGA‐TGA
Arg3244Term
9730C>T
R3244*
Primary microcephaly
Gul (2007) J Neurogenet 21:153
PubMed 17849285
ASPM
CM091962
TAT‐TAA
Tyr3263Term
9789T>A
Y3263*
Primary microcephaly
Nicholas (2009) J Med Genet 46:249
PubMed 19028728
ASPM
CM142028
CGA‐TGA
Arg3304Term
9910C>T
R3304*
Primary microcephaly
Tan (2014) Clin Genet 85:353
PubMed 23611254
ASPM
CM077230
TAC‐TAA
Tyr3353Term
10059C>A
Y3353*
Primary microcephaly
Gul (2007) J Neurogenet 21:153
PubMed 17849285
ASPM
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
CM107069
CM129452
CM040679
CM131485
CM139955
CM076011
CM980163
CM960118
CM077234
CM003916
CM118176
CM992816
CM980164
CGA‐TGA
AGT‐GGT
AAT‐AGT
TAT‐AAT
ATG‐GTG
TGT‐TGA
GGC‐GTC
CAA‐TAA
GAC‐GGC
TCG‐TAG
TGC‐CGC
CAA‐TAA
CAG‐TAG
Arg3354Term
Ser15Gly
Asn41Ser
Tyr44Asn
Met67Val
Cys72Term
Gly85Val
Gln95Term
Asp96Gly
Ser105Term
Cys108Arg
Gln110Term
Gln111Term
10060C>T
43A>G
122A>G
130T>A
199A>G
216T>A
254G>T
283C>T
287A>G
314C>A
322T>C
328C>T
331C>T
R3354*
S15G
N41S
Y44N
M67V
C72*
G85V
Q95*
D96G
S105*
C108R
Q110*
Q111*
Primary microcephaly
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Halsall (2010) J Med Genet 47:769
Khan (2012) Int J Hum Genet 12:125
Deguti (2004) Hum Mutat 23:398
Li (2013) J Hum Genet 58:67
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Lepori (2007) Genet Test 11:328
Loudianos (1998) Hum Mutat 12:89
Loudianos (1996) Hum Genet 98:640
Ye (2007) World J Gastroenterol 13:5147
Genschel (2000) Hum Mutat 16:278
Lee (2011) Liver Int 31:831
Loudianos (1999) J Med Genet 36:833
Loudianos (1998) Hum Mutat 12:89
PubMed 20679666
PubMed: No PubMed ID
PubMed 15024742
PubMed 23235335
PubMed 24094725
PubMed 17949296
PubMed 9671269
PubMed 8931691
PubMed 17876883
PubMed 10980554
PubMed 21645214
PubMed 10544227
PubMed 9671269
www.ngpd.it
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
Elenco mutazioni NGPD
CM035746
CM133397
CM139956
CM133423
CM136607
CM133424
CM076001
CM131486
CM123052
HM050007
CM076010
CM133398
CM077235
CM081184
CM983378
CM081183
CM960119
CM133396
CM980165
CM111986
CM110347
CM067647
CM053787
CM129451
CM133406
CM133425
CM131487
CM129456
CM082494
CM129457
CM129458
CM118177
CM074054
CM129453
CM129455
CM994106
CM992591
CM004517
CM980166
CM980167
CM136608
HM050019
CM136088
HM050020
CM053135
CM125002
CM133393
CM994107
CM081181
CM128750
CM061646
CM970137
CM1313552
CAA‐TAA
ATT‐ACT
AGG‐GGG
AGG‐TGG
GTC‐TTC
CGG‐TGG
CAG‐TAG
TGT‐TTT
GGA‐GTA
TAT‐TAA
CAG‐TAG
CAG‐TAG
GAC‐GAA
TTA‐TGA
TGC‐TGA
CAA‐TAA
CAA‐TAA
TAT‐TAA
TGT‐TGA
GAT‐CAT
GAA‐TAA
GGG‐AGG
CAG‐TAG
GAA‐TAA
ATC‐AGC
TCC‐TGC
CAG‐TAG
GAA‐CAA
GAA‐TAA
GCA‐CCA
TCT‐GCT
CCA‐CTA
GAA‐TAA
GAA‐AAA
GAC‐AAC
CTT‐GTT
CAG‐TAG
GCA‐TCA
TGC‐TGA
TTA‐TCA
ACC‐TCC
CAG‐TAG
GGT‐GAT
GGT‐GTT
TTG‐TAG
GAG‐GGG
TAT‐TGT
TAT‐CAT
GTC‐GCC
CCC‐CTC
GAG‐AAG
CAG‐TAG
CAG‐TAG
Gln115Term
Ile116Thr
Arg136Gly
Arg136Trp
Val145Phe
Arg148Trp
Gln155Term
Cys157Phe
Gly170Val
Tyr187Term
Gln188Term
Gln193Term
Asp196Glu
Leu217Term
Cys271Term
Gln286Term
Gln289Term
Tyr301Term
Cys305Term
Asp329His
Glu332Term
Gly333Arg
Gln355Term
Glu378Term
Ile381Ser
Ser382Cys
Gln388Term
Glu396Gln
Glu396Term
Ala399Pro
Ser406Ala
Pro410Leu
Glu412Term
Glu418Lys
Asp419Asn
Leu436Val
Gln457Term
Ala486Ser
Cys490Term
Leu492Ser
Thr498Ser
Gln511Term
Gly515Asp
Gly515Val
Leu523Term
Glu529Gly
Tyr532Cys
Tyr532His
Val536Ala
Pro539Leu
Glu541Lys
Gln544Term
Gln547Term
343C>T
347T>C
406A>G
406A>T
433G>T
442C>T
463C>T
470G>T
509G>T
561T>A
562C>T
577C>T
588C>A
650T>G
813C>A
856C>T
865C>T
903T>A
915T>A
985G>C
994G>T
997G>A
1063C>T
1132G>T
1142T>G
1145C>G
1162C>T
1186G>C
1186G>T
1195G>C
1216T>G
1229C>T
1234G>T
1252G>A
1255G>A
1306C>G
1369C>T
1456G>T
1470C>A
1475T>C
1492A>T
1531C>T
1544G>A
1544G>T
1568T>A
1586A>G
1595A>G
1594T>C
1607T>C
1616C>T
1621G>A
1630C>T
1639C>T
Q115*
I116T
R136G
R136W
V145F
R148W
Q155*
C157F
G170V
Y187*
Q188*
Q193*
D196E
L217*
C271*
Q286*
Q289*
Y301*
C305*
D329H
E332*
G333R
Q355*
E378*
I381S
S382C
Q388*
E396Q
E396*
A399P
S406A
P410L
E412*
E418K
D419N
L436V
Q457*
A486S
C490*
L492S
T498S
Q511*
G515D
G515V
L523*
E529G
Y532C
Y532H
V536A
P539L
E541K
Q544*
Q547*
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Loudianos (2003) Genet Test 7:107
Coffey (2013) Brain 136:1476
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Coffey (2013) Brain 136:1476
Gu (2013) PLoS One 8:e66526
Coffey (2013) Brain 136:1476
Lepori (2007) Genet Test 11:328
Li (2013) J Hum Genet 58:67
Maria‐Barbara (2012) Mol Cell Probes 26:147
Ray (2005) Hum Genet 117:299
Lepori (2007) Genet Test 11:328
Coffey (2013) Brain 136:1476
Ye (2007) World J Gastroenterol 13:5147
Davies (2008) Genet Test 12:139
Ha‐Hao (1998) Eur J Hum Genet 6:616
Davies (2008) Genet Test 12:139
Waldenstrom (1996) Genomics 37:303
Coffey (2013) Brain 136:1476
Loudianos (1998) Hum Mutat 12:89
Panichareon (2011) Eur J Med Genet 54:103
Li (2011) BMC Med Genet 12:6
Santhosh (2006) Indian J Gastroenterol 25:277
Gromadzka (2005) Clin Genet 68:524
Khan (2012) Int J Hum Genet 12:125
Coffey (2013) Brain 136:1476
Coffey (2013) Brain 136:1476
Li (2013) J Hum Genet 58:67
Khan (2012) Int J Hum Genet 12:125
Abdelghaffar (2008) J Hum Genet 53:681
Khan (2012) Int J Hum Genet 12:125
Khan (2012) Int J Hum Genet 12:125
Lee (2011) Liver Int 31:831
Park (2007) Hum Mutat 28:1108
Khan (2012) Int J Hum Genet 12:125
Khan (2012) Int J Hum Genet 12:125
Cox (1999) ATP7B LSDB entry Unpublished:
Curtis (1999) Hum Mutat 14:304
Loudianos (2000) Genet Test 4:399
Tsai (1998) Hum Mutat 12:370
Loudianos (1998) Hum Mutat 12:89
Gu (2013) PLoS One 8:e66526
Yang (2005) Hum Genet 118:544
Aggarwal (2013) Ann Hum Genet 77:299
Yang (2005) Hum Genet 118:544
Cox (2005) Hum Mutat 26:280
Bost (2012) J Trace Elem Med Biol 26:97
Coffey (2013) Brain 136:1476
Cox (2005) Hum Mutat 26:280
Davies (2008) Genet Test 12:139
Hofer (2012) J Hum Genet 57:564
Unpublished:.
Kemppainen (1997) J Invest Dermatol 108:35
Zhu (2013) CNS Neurosci Ther 19:346
PubMed 12885331
PubMed 23518715
PubMed 24094725
PubMed 23518715
PubMed 23843956
PubMed 23518715
PubMed 17949296
PubMed 23235335
PubMed 22484412
Source: Online submission
PubMed 17949296
PubMed 23518715
PubMed 17876883
PubMed 18373411
PubMed 9887381
PubMed 18373411
PubMed 8938442
PubMed 23518715
PubMed 9671269
PubMed 21034864
PubMed 21219664
PubMed 17264425
PubMed 16283883
PubMed: No PubMed ID
PubMed 23518715
PubMed 23518715
PubMed 23235335
PubMed: No PubMed ID
PubMed 18483695
PubMed: No PubMed ID
PubMed: No PubMed ID
PubMed 21645214
PubMed 17587212
PubMed: No PubMed ID
PubMed: No PubMed ID
Source: LSDB
PubMed 10502777
PubMed 11216666
PubMed 9829905
PubMed 9671269
PubMed 23843956
Source: Online submission
PubMed 23551039
Source: Online submission
PubMed 16088907
PubMed 22677543
PubMed 23518715
PubMed 16088907
PubMed 18373411
PubMed 22763723
Source: LSDB
PubMed 8980283
PubMed 23607698
www.ngpd.it
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
Elenco mutazioni NGPD
CM082495
CM125003
CM053128
CM077236
CM139957
CM133426
CM053121
CM131488
CM110337
CM133427
CM992592
CM014320
CM950109
CM053793
CM053136
CM980168
CM970138
CM994108
CM016281
CM053794
CM024202
CM081173
CM980169
CM109466
CM074053
CM105441
CM051849
CM980170
CM973225
CM080091
CM074060
CM053134
CM117981
CM970139
CM983395
CM960121
CM960120
CM053130
CM992817
CM960122
CM992593
CM139958
CM960123
CM035478
HM060564
CM118178
CM087854
CM022324
CM1210111
CM1210110
CM074056
CM136091
CM133435
CTG‐CCG
GCA‐GAA
GGC‐GAC
GGC‐AGC
GCC‐ACC
GTT‐ATT
GCC‐CCC
GTT‐GGT
GAA‐AAA
GGT‐TGT
CGG‐CAG
CGG‐TGG
GGC‐GCC
CAT‐TAT
TTG‐TCG
GAC‐CAC
ATG‐AGG
CAG‐CGG
TGG‐TGA
TCT‐TAT
TGC‐TGA
AGC‐CGC
ATG‐ATA
TTA‐TAA
AAC‐ATC
CAG‐TAG
CCA‐CTA
GGA‐AGA
TCC‐TGC
TCC‐CCC
TCC‐TAC
TGT‐TAT
CAG‐CGG
CTC‐CCC
GGT‐GCT
GGT‐CGT
GGT‐AGT
GGT‐GTT
GGG‐AGG
GGG‐GAG
GGG‐TGG
TGG‐TGA
TAC‐TGC
TAC‐CAC
TAC‐TAA
CAG‐TAG
GCC‐CCC
TCT‐CCT
GCC‐GAC
GCC‐GTC
ATG‐GTG
GAC‐GGC
GTG‐GCG
Leu549Pro
Ala553Glu
Gly591Asp
Gly591Ser
Ala595Thr
Val597Ile
Ala604Pro
Val606Gly
Glu611Lys
Gly614Cys
Arg616Gln
Arg616Trp
Gly626Ala
His639Tyr
Leu641Ser
Asp642His
Met645Arg
Gln649Arg
Trp650Term
Ser653Tyr
Cys656Term
Ser657Arg
Met665Ile
Leu667Term
Asn676Ile
Gln680Term
Pro690Leu
Gly691Arg
Ser693Cys
Ser693Pro
Ser693Tyr
Cys703Tyr
Gln707Arg
Leu708Pro
Gly710Ala
Gly710Arg
Gly710Ser
Gly710Val
Gly711Arg
Gly711Glu
Gly711Trp
Trp712Term
Tyr713Cys
Tyr715His
Tyr715Term
Gln717Term
Ala718Pro
Ser721Pro
Ala727Asp
Ala727Val
Met729Val
Asp730Gly
Val731Ala
1646T>C
1658C>A
1772G>A
1771G>A
1783G>A
1789G>A
1810G>C
1817T>G
1831G>A
1840G>T
1847G>A
1846C>T
1877G>C
1915C>T
1922T>C
1924G>C
1934T>G
1946A>G
1950G>A
1958C>A
1968C>A
1969A>C
1995G>A
2000T>A
2027A>T
2038C>T
2069C>T
2071G>A
2078C>G
2077T>C
2078C>A
2108G>A
2120A>G
2123T>C
2129G>C
2128G>C
2128G>A
2129G>T
2131G>A
2132G>A
2131G>T
2136G>A
2138A>G
2143T>C
2145C>A
2149C>T
2152G>C
2161T>C
2180C>A
2180C>T
2185A>G
2189A>G
2192T>C
L549P
A553E
G591D
G591S
A595T
V597I
A604P
V606G
E611K
G614C
R616Q
R616W
G626A
H639Y
L641S
D642H
M645R
Q649R
W650*
S653Y
C656*
S657R
M665I
L667*
N676I
Q680*
P690L
G691R
S693C
S693P
S693Y
C703Y
Q707R
L708P
G710A
G710R
G710S
G710V
G711R
G711E
G711W
W712*
Y713C
Y715H
Y715*
Q717*
A718P
S721P
A727D
A727V
M729V
D730G
V731A
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Abdelghaffar (2008) J Hum Genet 53:681
Bost (2012) J Trace Elem Med Biol 26:97
Cox (2005) Hum Mutat 26:280
Gupta (2007) Cell Mol Neurobiol 27:1023
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Coffey (2013) Brain 136:1476
Cox (2005) Hum Mutat 26:280
Li (2013) J Hum Genet 58:67
Li (2011) BMC Med Genet 12:6
Coffey (2013) Brain 136:1476
Curtis (1999) Hum Mutat 14:304
Caca (2001) J Hepatol 35:575
Figus (1995) Am J Hum Genet 57:1318
Gromadzka (2005) Clin Genet 68:524
Cox (2005) Hum Mutat 26:280
Loudianos (1998) Hum Mutat 12:89
Shah (1997) Am J Hum Genet 61:317
Cox (1999) ATP7B LSDB entry Unpublished:
Wu (2001) Arch Neurol 58:971
Gromadzka (2005) Clin Genet 68:524
Yoo (2002) Genet Med 4:43S
Davies (2008) Genet Test 12:139
Loudianos (1998) Hum Mutat 12:89
Weiss (2010) J Inherit Metab Dis 33S3:233
Folhoffer (2007) Eur J Gastroenterol Hepatol 19:105
Okada (2010) Scand J Gastroenterol 45:1232
Margarit (2005) Clin Genet 68:61
Loudianos (1998) Hum Mutat 12:89
Fan (1997) Chin Med J (Engl) 110:887
Mak (2008) J Hum Genet 53:55
Folhoffer (2007) Eur J Gastroenterol Hepatol 19:105
Cox (2005) Hum Mutat 26:280
Wang (2011) J Hum Genet 56:660
Shah (1997) Am J Hum Genet 61:317
Ha‐Hao (1998) Eur J Hum Genet 6:616
Loudianos (1996) Hum Genet 98:640
Waldenstrom (1996) Genomics 37:303
Cox (2005) Hum Mutat 26:280
Loudianos (1999) J Med Genet 36:833
Loudianos (1996) Hum Genet 98:640
Curtis (1999) Hum Mutat 14:304
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Loudianos (1996) Hum Genet 98:640
Folhoffer (2003) Orv Hetil 144:2509
Santhosh (2006) Hum Genet 119:361
Lee (2011) Liver Int 31:831
Karunas (2008) Genomic Med 2:244
Loudianos (2002) Hum Mutat 20:260
Schushan (2012) Metallomics 4:669
Schushan (2012) Metallomics 4:669
Park (2007) Hum Mutat 28:1108
Aggarwal (2013) Ann Hum Genet 77:299
Coffey (2013) Brain 136:1476
PubMed 18483695
PubMed 22677543
PubMed 16088907
PubMed 17823867
PubMed 24094725
PubMed 23518715
PubMed 16088907
PubMed 23235335
PubMed 21219664
PubMed 23518715
PubMed 10502777
PubMed 11690702
PubMed 8533760
PubMed 16283883
PubMed 16088907
PubMed 9671269
PubMed 9311736
Source: LSDB
PubMed 11405812
PubMed 16283883
PubMed 12544487
PubMed 18373411
PubMed 9671269
PubMed 20517649
PubMed 17272994
PubMed 20491539
PubMed 15952988
PubMed 9671269
PubMed 9772425
PubMed 18034201
PubMed 17272994
PubMed 16088907
PubMed 21796144
PubMed 9311736
PubMed 9887381
PubMed 8931691
PubMed 8938442
PubMed 16088907
PubMed 10544227
PubMed 8931691
PubMed 10502777
PubMed 24094725
PubMed 8931691
PubMed 14974157
Source: Online submission
PubMed 21645214
PubMed 19484379
PubMed 12325021
PubMed 22692182
PubMed 22692182
PubMed 17587212
PubMed 23551039
PubMed 23518715
www.ngpd.it
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
Elenco mutazioni NGPD
CM1210114
CM131489
CM131490
CM118179
CM125004
CM024362
CM133404
CM983379
CM992818
CM109467
CM992594
CM133394
CM980171
CM087674
CM100231
CM068335
CM053126
CM063859
CM016106
CM003305
CM072879
CM950110
CM032847
CM123054
CM045739
CM994109
CM1210109
CM111987
CM024203
CM067648
CM992595
CM001615
CM992596
CM1111076
CM109468
CM053789
CM952199
CM960124
CM950112
CM950111
CM970140
CM128752
CM960125
CM053796
CM994110
CM133395
CM1111074
CM139959
CM992597
CM970141
CM995168
CM125005
CM128748
GTG‐GAG
CTC‐CAC
CTC‐CCC
GTC‐TTC
GCC‐GTC
ACA‐AGA
ACA‐ATA
TAT‐TGT
TAT‐TAA
TAT‐TGT
TCT‐CCT
CTG‐CCG
ATC‐TTC
CTG‐ATG
GAG‐AAG
AAG‐AGG
GCG‐GGG
GCG‐GTG
AGG‐ATG
CCT‐CTT
TTC‐TAC
GAC‐AAC
GAC‐GGC
GAC‐CAC
ACG‐AGG
ACG‐ATG
ACG‐CCG
CCC‐TCC
CCC‐CAC
CCC‐CTC
ATG‐AGG
ATG‐ATT
ATG‐GTG
CTC‐CTG
CTC‐CCC
CTG‐CCG
CTG‐GTG
CGG‐CAG
CGG‐GGG
CGG‐CTG
CGG‐TGG
TGG‐GGG
TGG‐TAG
TGG‐TGA
GAA‐GGA
AAG‐AGG
ACC‐ATC
TCA‐TGA
CTC‐CGC
CTC‐TTC
GCC‐ACC
GAG‐TAG
AGG‐AGT
Val731Glu
Leu732His
Leu732Pro
Val734Phe
Ala736Val
Thr737Arg
Thr737Ile
Tyr741Cys
Tyr741Term
Tyr743Cys
Ser744Pro
Leu745Pro
Ile747Phe
Leu748Met
Glu754Lys
Lys755Arg
Ala756Gly
Ala756Val
Arg758Met
Pro760Leu
Phe763Tyr
Asp765Asn
Asp765Gly
Asp765His
Thr766Arg
Thr766Met
Thr766Pro
Pro767Ser
Pro768His
Pro768Leu
Met769Arg
Met769Ile
Met769Val
Leu770Leu
Leu770Pro
Leu776Pro
Leu776Val
Arg778Gln
Arg778Gly
Arg778Leu
Arg778Trp
Trp779Gly
Trp779Term
Trp779Term
Glu781Gly
Lys785Arg
Thr788Ile
Ser789Term
Leu795Arg
Leu795Phe
Ala803Thr
Glu810Term
Arg816Ser
2192T>A
2195T>A
2195T>C
2200G>T
2207C>T
2210C>G
2210C>T
2222A>G
2223T>A
2228A>G
2230T>C
2234T>C
2239A>T
2242C>A
2260G>A
2264A>G
2267C>G
2267C>T
2273G>T
2279C>T
2288T>A
2293G>A
2294A>G
2293G>C
2297C>G
2297C>T
2296A>C
2299C>T
2303C>A
2303C>T
2306T>G
2307G>T
2305A>G
2310C>G
2309T>C
2327T>C
2326C>G
2333G>A
2332C>G
2333G>T
2332C>T
2335T>G
2336G>A
2337G>A
2342A>G
2354A>G
2363C>T
2366C>G
2384T>G
2383C>T
2407G>A
2428G>T
2448G>T
V731E
L732H
L732P
V734F
A736V
T737R
T737I
Y741C
Y741*
Y743C
S744P
L745P
I747F
L748M
E754K
K755R
A756G
A756V
R758M
P760L
F763Y
D765N
D765G
D765H
T766R
T766M
T766P
P767S
P768H
P768L
M769R
M769I
M769V
L770L
L770P
L776P
L776V
R778Q
R778G
R778L
R778W
W779G
W779*
W779*
E781G
K785R
T788I
S789*
L795R
L795F
A803T
E810*
R816S
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Schushan (2012) Metallomics 4:669
Li (2013) J Hum Genet 58:67
Li (2013) J Hum Genet 58:67
Lee (2011) Liver Int 31:831
Bost (2012) J Trace Elem Med Biol 26:97
Vrabelova (2002) Cas Lek Cesk 141:642
Coffey (2013) Brain 136:1476
Ha‐Hao (1998) Eur J Hum Genet 6:616
Loudianos (1999) J Med Genet 36:833
Weiss (2010) J Inherit Metab Dis 33S3:233
Curtis (1999) Hum Mutat 14:304
Coffey (2013) Brain 136:1476
Loudianos (1998) Hum Mutat 12:89
Krumina (2008) Genetika 44:1379
Merle (2010) BMC Gastroenterol 10:8
Seo (2006) Korean J Hepatol 12:333
Cox (2005) Hum Mutat 26:280
Caprai (2006) J Pediatr 148:138
Xu (2001) Arch Neurol 58:1879
Genschel (2000) Hum Mutat 17:156
Chappuis (2007) J Trace Elem Med Biol 21:37
Figus (1995) Am J Hum Genet 57:1318
Gu (2003) Clin Genet 64:479
Maria‐Barbara (2012) Mol Cell Probes 26:147
Pendlebury (2004) Neurology 63:1982
Cox (2005) Hum Mutat 26:280
Schushan (2012) Metallomics 4:669
Panichareon (2011) Eur J Med Genet 54:103
Yoo (2002) Genet Med 4:43S
Santhosh (2006) Indian J Gastroenterol 25:277
Curtis (1999) Hum Mutat 14:304
Okada (2000) Hum Mutat 15:454
Thomas (1995) Nat Genet 9:210
Zali (2011) Hepat Mon 11:890
Weiss (2010) J Inherit Metab Dis 33S3:233
Gromadzka (2005) Clin Genet 68:524
Thomas (1995) Nat Genet 9:210
Chuang (1996) J Med Genet 33:521
Figus (1995) Am J Hum Genet 57:1318
Thomas (1995) Nat Genet 9:210
Shah (1997) Am J Hum Genet 61:317
Hofer (2012) J Hum Genet 57:564
Waldenstrom (1996) Genomics 37:303
Gromadzka (2005) Clin Genet 68:524
Cox (1999) ATP7B LSDB entry Unpublished:
Coffey (2013) Brain 136:1476
Zali (2011) Hepat Mon 11:890
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Curtis (1999) Hum Mutat 14:304
Shah (1997) Am J Hum Genet 61:317
Ohura (1999) J Inherit Metab Dis 22:74
Bost (2012) J Trace Elem Med Biol 26:97
Hofer (2012) J Hum Genet 57:564
PubMed 22692182
PubMed 23235335
PubMed 23235335
PubMed 21645214
PubMed 22677543
PubMed 12515040
PubMed 23518715
PubMed 9887381
PubMed 10544227
PubMed 20517649
PubMed 10502777
PubMed 23518715
PubMed 9671269
PubMed 19062534
PubMed 20082719
PubMed 16998287
PubMed 16088907
PubMed 16423615
PubMed 11708998
PubMed 11180609
PubMed 17317524
PubMed 8533760
PubMed 14986826
PubMed 22484412
PubMed 15557537
PubMed 16088907
PubMed 22692182
PubMed 21034864
PubMed 12544487
PubMed 17264425
PubMed 10502777
PubMed 10790207
PubMed 7626145
PubMed 22308153
PubMed 20517649
PubMed 16283883
PubMed 7626145
PubMed 8782057
PubMed 8533760
PubMed 7626145
PubMed 9311736
PubMed 22763723
PubMed 8938442
PubMed 16283883
Source: LSDB
PubMed 23518715
PubMed 22308153
PubMed 24094725
PubMed 10502777
PubMed 9311736
PubMed 10070620
PubMed 22677543
PubMed 22763723
www.ngpd.it
Elenco mutazioni NGPD
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
CM1313553
CM076005
CM118180
CM123056
CM136594
CM980172
CM067972
CM136092
CM072878
CM111988
CM139960
CM117982
CM068337
CM950113
CM076000
CM125006
CM053120
CM123057
CM052169
CM962394
CM110338
CM980173
CM086776
CM131511
HM0655
CM083482
CM080093
CM032848
CM074057
CM960127
CM012733
CM076006
CM051007
CM016282
CM994111
CM072876
CM980174
CM024363
CM980175
CM980176
CM133392
CM131491
CM117983
CM980177
CM110339
CM040680
CM980178
CM004606
CM950114
CM133428
CAA‐TAA
CGG‐CCG
CGG‐TGG
GGG‐GAG
GGA‐TGA
CCA‐CTA
GAT‐AAT
GAT‐TAT
GGG‐AGG
ACC‐ATC
TCC‐TTC
TCC‐TAC
CTC‐CGC
ATC‐ACC
ACA‐GCA
GAA‐GGA
GCC‐ACC
GTC‐GGC
GGA‐AGA
GGA‐GTA
GCG‐CCG
GCG‐GTG
AGG‐GGG
GGG‐GTG
TCT‐TTT
AAT‐AAG
ACC‐CCC
GTG‐ATG
GGC‐GAC
GGC‐GTC
CAG‐CGG
ATT‐TTT
AAG‐TAG
CAG‐TAG
CAG‐CGG
GAC‐GCC
GAC‐AAC
GAC‐GAG
CGG‐GGG
CGG‐TGG
TTT‐TGT
AGT‐AGA
AGT‐CGT
AGT‐AAT
ATC‐GTC
TCA‐TAA
ACT‐CCT
ACG‐ATG
TTG‐TAG
TTG‐GTG
Gln819Term
Arg827Pro
Arg827Trp
Gly836Glu
Gly837Term
Pro840Leu
Asp842Asn
Asp842Tyr
Gly843Arg
Thr850Ile
Ser855Phe
Ser855Tyr
Leu856Arg
Ile857Thr
Thr858Ala
Glu860Gly
Ala861Thr
Val864Gly
Gly869Arg
Gly869Val
Ala874Pro
Ala874Val
Arg875Gly
Gly875Val
Ser876Phe
Asn878Lys
Thr888Pro
Val890Met
Gly891Asp
Gly891Val
Gln898Arg
Ile899Phe
Lys910Term
Gln914Term
Gln915Arg
Asp918Ala
Asp918Asn
Asp918Glu
Arg919Gly
Arg919Trp
Phe920Cys
Ser921Arg
Ser921Arg
Ser921Asn
Ile929Val
Ser932Term
Thr933Pro
Thr935Met
Leu936Term
Leu936Val
2455C>T
2480G>C
2479C>T
2507G>A
2509G>T
2519C>T
2524G>A
2524G>T
2527G>A
2549C>T
2564C>T
2564C>A
2567T>G
2570T>C
2572A>G
2579A>G
2581G>A
2591T>G
2605G>A
2606G>T
2620G>C
2621C>T
2623A>G
2624G>T
2627C>T
2634T>G
2662A>C
2668G>A
2672G>A
2672G>T
2693A>G
2695A>T
2728A>T
2740C>T
2744A>G
2753A>C
2752G>A
2754C>G
2755C>G
2755C>T
2759T>G
2763T>A
2761A>C
2762G>A
2785A>G
2795C>A
2797A>C
2804C>T
2807T>A
2806T>G
Q819*
R827P
R827W
G836E
G837*
P840L
D842N
D842Y
G843R
T850I
S855F
S855Y
L856R
I857T
T858A
E860G
A861T
V864G
G869R
G869V
A874P
A874V
R875G
G875V
S876F
N878K
T888P
V890M
G891D
G891V
Q898R
I899F
K910*
Q914*
Q915R
D918A
D918N
D918E
R919G
R919W
F920C
S921R
S921R
S921N
I929V
S932*
T933P
T935M
L936*
L936V
ATP7B
CM119350
TGG‐TGT
Trp939Cys
2817G>T
W939C
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease with early and/or severe hepatic disease
Zhu (2013) CNS Neurosci Ther 19:346
Lepori (2007) Genet Test 11:328
Lee (2011) Liver Int 31:831
Maria‐Barbara (2012) Mol Cell Probes 26:147
Gu (2013) PLoS One 8:e66526
Loudianos (1998) Hum Mutat 12:89
Lam (2006) Clin Chem 52:517
Aggarwal (2013) Ann Hum Genet 77:299
Chappuis (2007) J Trace Elem Med Biol 21:37
Panichareon (2011) Eur J Med Genet 54:103
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Wang (2011) J Hum Genet 56:660
Seo (2006) Korean J Hepatol 12:333
Figus (1995) Am J Hum Genet 57:1318
Lepori (2007) Genet Test 11:328
Bost (2012) J Trace Elem Med Biol 26:97
Cox (2005) Hum Mutat 26:280
Maria‐Barbara (2012) Mol Cell Probes 26:147
Margarit (2005) Clin Genet 68:61
Loudianos (1996) Hum Genet 98:640
Li (2011) BMC Med Genet 12:6
Yamaguchi (1998) Hum Mutat S1:S320
Santhosh (2008) World J Gastroenterol 14:4672
Li (2013) J Hum Genet 58:67
Balakrishnan (2007) Hum Genet 120:917
Abdelghaffar (2008) J Hum Genet 53:681
Mak (2008) J Hum Genet 53:55
Gu (2003) Clin Genet 64:479
Park (2007) Hum Mutat 28:1108
Loudianos (1996) Hum Genet 98:640
Butler (2001) Mol Genet Metab 72:223
Lepori (2007) Genet Test 11:328
Kumar (2005) Clin Genet 67:443
Wu (2001) Arch Neurol 58:971
Cox (1999) ATP7B LSDB entry Unpublished:
Chappuis (2007) J Trace Elem Med Biol 21:37
Loudianos (1998) Hum Mutat 12:89
Vrabelova (2002) Cas Lek Cesk 141:642
Yamaguchi (1998) Hum Mutat S1:S320
Loudianos (1998) Hum Mutat 12:89
Coffey (2013) Brain 136:1476
Li (2013) J Hum Genet 58:67
Wang (2011) J Hum Genet 56:660
Loudianos (1998) Hum Mutat 12:89
Li (2011) BMC Med Genet 12:6
Deguti (2004) Hum Mutat 23:398
Loudianos (1998) Hum Mutat 12:89
Wu (2000) Chin Med J (Engl) 113:40
Thomas (1995) Nat Genet 9:210
Coffey (2013) Brain 136:1476
PubMed 23607698
PubMed 17949296
PubMed 21645214
PubMed 22484412
PubMed 23843956
PubMed 9671269
PubMed 16510432
PubMed 23551039
PubMed 17317524
PubMed 21034864
PubMed 24094725
PubMed 21796144
PubMed 16998287
PubMed 8533760
PubMed 17949296
PubMed 22677543
PubMed 16088907
PubMed 22484412
PubMed 15952988
PubMed 8931691
PubMed 21219664
PubMed 9452121
PubMed 18698682
PubMed 23235335
Source: Online submission
PubMed 18483695
PubMed 18034201
PubMed 14986826
PubMed 17587212
PubMed 8931691
PubMed 11243728
PubMed 17949296
PubMed 15811015
PubMed 11405812
Source: LSDB
PubMed 17317524
PubMed 9671269
PubMed 12515040
PubMed 9452121
PubMed 9671269
PubMed 23518715
PubMed 23235335
PubMed 21796144
PubMed 9671269
PubMed 21219664
PubMed 15024742
PubMed 9671269
PubMed 11775208
PubMed 7626145
PubMed 23518715
Usta (2011) JIMD Rep 4:129
PubMed 23430908
www.ngpd.it
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
Elenco mutazioni NGPD
CM123059
CM980179
CM994112
CM950115
CM040681
CM032849
CM960128
CM950116
CM076003
CM081178
CM081169
CM032850
CM111989
CM960129
CM139961
CM072875
CM131593
HM050021
CM141369
CM076007
CM990275
CM107540
CM131493
CM139962
CM053792
CM136277
CM1210113
CM136093
CM053119
CM051387
CM970142
CM075997
CM136278
CM133399
CM053122
CM114901
CM053124
CM980180
CM992819
CM081172
HM060565
CM016058
CM075999
CM076008
CM110340
CM133429
CM980181
CM125007
CM116728
CM133407
CM074059
CM080087
CM125008
TGG‐TAG
GGT‐GAT
GGT‐TGT
GGT‐AGT
GTT‐GGT
CAG‐TAG
ATC‐TTC
CGG‐CAG
CGG‐TGG
GCT‐GTT
ACG‐ATG
TCC‐TAC
ACG‐AGG
ACG‐ATG
GTG‐ATG
CTG‐CAG
TGC‐CGC
TGC‐TAC
GCC‐ACC
GCC‐GTC
TGC‐TAC
TCC‐TTC
CTG‐CCG
GGG‐AGG
GGG‐CGG
GGG‐GAG
GGG‐GTG
GCC‐CCC
ACG‐ATG
CCC‐CAC
CCC‐CTC
ACG‐ATG
GCT‐TCT
GTC‐GCC
ATG‐ACG
GGC‐GAC
GGG‐AGG
GCG‐ACG
GCG‐GTG
CAG‐CCG
AAG‐AGG
AAG‐ACG
GGC‐CGC
GGC‐GTC
CCC‐CTC
ATG‐ATA
GCG‐GTG
AAG‐AGG
ATA‐AAA
ATA‐GTA
GTG‐GCG
ATG‐AGG
ATG‐AAG
Trp939Term
Gly943Asp
Gly943Cys
Gly943Ser
Val949Gly
Gln963Term
Ile967Phe
Arg969Gln
Arg969Trp
Ala971Val
Thr974Met
Ser975Tyr
Thr977Arg
Thr977Met
Val978Met
Leu979Gln
Cys980Arg
Cys980Tyr
Ala982Thr
Ala982Val
Cys985Tyr
Ser986Phe
Leu987Pro
Gly988Arg
Gly988Arg
Gly988Glu
Gly988Val
Ala990Pro
Thr991Met
Pro992His
Pro992Leu
Thr993Met
Ala994Ser
Val995Ala
Met996Thr
Gly998Asp
Gly1000Arg
Ala1003Thr
Ala1003Val
Gln1004Pro
Lys1010Arg
Lys1010Thr
Gly1012Arg
Gly1012Val
Pro1014Leu
Met1017Ile
Ala1018Val
Lys1020Arg
Ile1021Lys
Ile1021Val
Val1024Ala
Met1025Arg
Met1025Lys
2816G>A
2828G>A
2827G>T
2827G>A
2846T>G
2887C>T
2899A>T
2906G>A
2905C>T
2912C>T
2921C>T
2924C>A
2930C>G
2930C>T
2932G>A
2936T>A
2938T>C
2939G>A
2944G>A
2945C>T
2954G>A
2957C>T
2960T>C
2962G>A
2962G>C
2963G>A
2963G>T
2968G>C
2972C>T
2975C>A
2975C>T
2978C>T
2980G>T
2984T>C
2987T>C
2993G>A
2998G>A
3007G>A
3008C>T
3011A>C
3029A>G
3029A>C
3034G>C
3035G>T
3041C>T
3051G>A
3053C>T
3059A>G
3062T>A
3061A>G
3071T>C
3074T>G
3074T>A
W939*
G943D
G943C
G943S
V949G
Q963*
I967F
R969Q
R969W
A971V
T974M
S975Y
T977R
T977M
V978M
L979Q
C980R
C980Y
A982T
A982V
C985Y
S986F
L987P
G988R
G988R
G988E
G988V
A990P
T991M
P992H
P992L
T993M
A994S
V995A
M996T
G998D
G1000R
A1003T
A1003V
Q1004P
K1010R
K1010T
G1012R
G1012V
P1014L
M1017I
A1018V
K1020R
I1021K
I1021V
V1024A
M1025R
M1025K
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Maria‐Barbara (2012) Mol Cell Probes 26:147
Tsai (1998) Hum Mutat 12:370
Cox (2005) Hum Mutat 26:280
Thomas (1995) Nat Genet 9:210
Deguti (2004) Hum Mutat 23:398
Gu (2003) Clin Genet 64:479
Waldenstrom (1996) Genomics 37:303
Figus (1995) Am J Hum Genet 57:1318
Lepori (2007) Genet Test 11:328
Davies (2008) Genet Test 12:139
Davies (2008) Genet Test 12:139
Gu (2003) Clin Genet 64:479
Panichareon (2011) Eur J Med Genet 54:103
Waldenstrom (1996) Genomics 37:303
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Chappuis (2007) J Trace Elem Med Biol 21:37
Li (2013) J Hum Genet 58:67
Yang (2005) Hum Genet 118:544
Chen (2014) Gene 538:204
Lepori (2007) Genet Test 11:328
Haas (1999) Hum Mutat 14:88
Wan (2010) Hepatology 52:1662
Li (2013) J Hum Genet 58:67
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Gromadzka (2005) Clin Genet 68:524
Tomic (2013) Vojnosanit Pregl 70:457
Schushan (2012) Metallomics 4:669
Aggarwal (2013) Ann Hum Genet 77:299
Cox (2005) Hum Mutat 26:280
Kumar (2005) Clin Genet 67:443
Nanji (1997) Am J Hum Genet 60:1423
Lepori (2007) Genet Test 11:328
Tomic (2013) Vojnosanit Pregl 70:457
Coffey (2013) Brain 136:1476
Cox (2005) Hum Mutat 26:280
Abdelghaffar (2008) J Hum Genet 53:681
Cox (2005) Hum Mutat 26:280
Loudianos (1998) Hum Mutat 12:89
Loudianos (1999) J Med Genet 36:833
Davies (2008) Genet Test 12:139
Santhosh (2006) Hum Genet 119:362
Shiono (2001) Am J Gastroenterol 96:3147
Lepori (2007) Genet Test 11:328
Lepori (2007) Genet Test 11:328
Li (2011) BMC Med Genet 12:6
Coffey (2013) Brain 136:1476
Loudianos (1998) Hum Mutat 12:89
Bost (2012) J Trace Elem Med Biol 26:97
Møller (2011) Eur J Hum Genet 19:935
Coffey (2013) Brain 136:1476
Park (2007) Hum Mutat 28:1108
Mak (2008) J Hum Genet 53:55
Bost (2012) J Trace Elem Med Biol 26:97
PubMed 22484412
PubMed 9829905
PubMed 16088907
PubMed 7626145
PubMed 15024742
PubMed 14986826
PubMed 8938442
PubMed 8533760
PubMed 17949296
PubMed 18373411
PubMed 18373411
PubMed 14986826
PubMed 21034864
PubMed 8938442
PubMed 24094725
PubMed 17317524
PubMed 23235335
Source: Online submission
PubMed 24476933
PubMed 17949296
PubMed 10447265
PubMed 20931554
PubMed 23235335
PubMed 24094725
PubMed 16283883
PubMed 23789284
PubMed 22692182
PubMed 23551039
PubMed 16088907
PubMed 15811015
PubMed 9199563
PubMed 17949296
PubMed 23789284
PubMed 23518715
PubMed 16088907
PubMed 18483695
PubMed 16088907
PubMed 9671269
PubMed 10544227
PubMed 18373411
Source: Online submission
PubMed 11721763
PubMed 17949296
PubMed 17949296
PubMed 21219664
PubMed 23518715
PubMed 9671269
PubMed 22677543
PubMed 21610751
PubMed 23518715
PubMed 17587212
PubMed 18034201
PubMed 22677543
www.ngpd.it
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
Elenco mutazioni NGPD
CM994681
CM136089
CM074055
CM983396
CM992598
CM053785
CM068336
CM970143
CM087673
CM970144
CM992820
CM980182
CM962395
CM080089
CM992599
CM087855
CM133436
CM992600
CM992821
CM970145
CM950117
CM962600
CM109465
CM992822
CM1111075
CM930059
CM118181
CM133430
CM133437
CM117984
CM123060
CM980183
CM024364
CM960130
CM980184
CM074061
CM040682
CM992601
CM032851
CM004518
CM950118
CM950119
CM110341
CM992823
CM051388
CM960131
CM044578
CM125009
CM024365
CM051850
CM044579
CM980185
CM992824
ACT‐ATT
GGC‐GAC
ACC‐GCC
ACC‐TCC
ACC‐GCC
ACC‐AGC
CAT‐CCT
GGC‐GTC
GTC‐ATC
AGG‐AAG
CGG‐CCG
CGG‐TGG
CTC‐CCC
GAT‐GTT
CCC‐CTC
CTG‐CCG
GCT‐GTT
GGG‐GAG
GCG‐GTG
GAG‐GCG
GAG‐AAG
GCC‐CCC
AGT‐AAT
GAA‐GGA
CAC‐AAC
CAC‐CAA
CAC‐TAC
CCC‐TCC
GCA‐GTA
TGT‐TTT
GAA‐TAA
CTT‐TTT
TTG‐TAG
GGA‐GAA
GGA‐GTA
TGC‐TAC
TTC‐TTG
CAG‐CCG
CCA‐CGA
GGC‐AGC
GGA‐AGA
ATT‐ACT
TGC‐CGC
TGC‐TTC
TGC‐TAC
GTC‐GAC
GTC‐ATC
GTC‐CTC
GGC‐GAC
TTG‐TAG
GTC‐GCC
CAG‐CAC
CAG‐TAG
Thr1029Ile
Gly1030Asp
Thr1031Ala
Thr1031Ser
Thr1033Ala
Thr1033Ser
His1034Pro
Gly1035Val
Val1036Ile
Arg1038Lys
Arg1041Pro
Arg1041Trp
Leu1043Pro
Asp1047Val
Pro1052Leu
Leu1057Pro
Ala1058Val
Gly1061Glu
Ala1063Val
Glu1064Ala
Glu1064Lys
Ala1065Pro
Ser1067Asn
Glu1068Gly
His1069Asn
His1069Gln
His1069Tyr
Pro1070Ser
Ala1074Val
Cys1079Phe
Glu1082Term
Leu1083Phe
Leu1088Term
Gly1089Glu
Gly1089Val
Cys1091Tyr
Phe1094Leu
Gln1095Pro
Pro1098Arg
Gly1099Ser
Gly1101Arg
Ile1102Thr
Cys1104Arg
Cys1104Phe
Cys1104Tyr
Val1106Asp
Val1106Ile
Val1106Leu
Gly1111Asp
Leu1120Term
Val1140Ala
Gln1142His
Gln1142Term
3086C>T
3089G>A
3091A>G
3091A>T
3097A>G
3098C>G
3101A>C
3104G>T
3106G>A
3113G>A
3122G>C
3121C>T
3128T>C
3140A>T
3155C>T
3170T>C
3173C>T
3182G>A
3188C>T
3191A>C
3190G>A
3193G>C
3200G>A
3203A>G
3205C>A
3207C>A
3205C>T
3208C>T
3221C>T
3236G>T
3244G>T
3247C>T
3263T>A
3266G>A
3266G>T
3272G>A
3282C>G
3284A>C
3293C>G
3295G>A
3301G>A
3305T>C
3310T>C
3311G>T
3311G>A
3317T>A
3316G>A
3316G>C
3332G>A
3359T>A
3419T>C
3426G>C
3424C>T
T1029I
G1030D
T1031A
T1031S
T1033A
T1033S
H1034P
G1035V
V1036I
R1038K
R1041P
R1041W
L1043P
D1047V
P1052L
L1057P
A1058V
G1061E
A1063V
E1064A
E1064K
A1065P
S1067N
E1068G
H1069N
H1069Q
H1069Y
P1070S
A1074V
C1079F
E1082*
L1083F
L1088*
G1089E
G1089V
C1091Y
F1094L
Q1095P
P1098R
G1099S
G1101R
I1102T
C1104R
C1104F
C1104Y
V1106D
V1106I
V1106L
G1111D
L1120*
V1140A
Q1142H
Q1142*
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Shimizu (1999) Pediatr Int 41:409
Aggarwal (2013) Ann Hum Genet 77:299
Park (2007) Hum Mutat 28:1108
Ha‐Hao (1998) Eur J Hum Genet 6:616
Curtis (1999) Hum Mutat 14:304
Vrabelova (2005) Mol Genet Metab 86:277
Seo (2006) Korean J Hepatol 12:333
Nanji (1997) Am J Hum Genet 60:1423
Krumina (2008) Genetika 44:1379
Kemppainen (1997) J Invest Dermatol 108:35
Loudianos (1999) J Med Genet 36:833
Loudianos (1998) Hum Mutat 12:89
Loudianos (1996) Hum Genet 98:640
Mak (2008) J Hum Genet 53:55
Curtis (1999) Hum Mutat 14:304
Karunas (2008) Genomic Med 2:244
Coffey (2013) Brain 136:1476
Curtis (1999) Hum Mutat 14:304
Loudianos (1999) J Med Genet 36:833
Shah (1997) Am J Hum Genet 61:317
Figus (1995) Am J Hum Genet 57:1318
Misrahi (1996) ATP7B LSDB entry Unpublished:
Weiss (2010) J Inherit Metab Dis 33S3:233
Loudianos (1999) J Med Genet 36:833
Zali (2011) Hepat Mon 11:890
Tanzi (1993) Nat Genet 5:344
Lee (2011) Liver Int 31:831
Coffey (2013) Brain 136:1476
Coffey (2013) Brain 136:1476
Wang (2011) J Hum Genet 56:660
Maria‐Barbara (2012) Mol Cell Probes 26:147
Kim (1998) Hum Mutat 11:275
Vrabelova (2002) Cas Lek Cesk 141:642
Loudianos (1996) Hum Genet 98:640
Loudianos (1998) Hum Mutat 12:89
Park (2007) Hum Mutat 28:1108
Deguti (2004) Hum Mutat 23:398
Curtis (1999) Hum Mutat 14:304
Gu (2003) Clin Genet 64:479
Loudianos (2000) Genet Test 4:399
Thomas (1995) Nat Genet 9:210
Thomas (1995) Nat Genet 9:210
Li (2011) BMC Med Genet 12:6
Loudianos (1999) J Med Genet 36:833
Kumar (2005) Clin Genet 67:443
Waldenstrom (1996) Genomics 37:303
Liu (2004) World J Gastroenterol 10:590
Bost (2012) J Trace Elem Med Biol 26:97
Vrabelova (2002) Cas Lek Cesk 141:642
Margarit (2005) Clin Genet 68:61
Liu (2004) World J Gastroenterol 10:590
Tsai (1998) Hum Mutat 12:370
Loudianos (1999) J Med Genet 36:833
PubMed 10453196
PubMed 23551039
PubMed 17587212
PubMed 9887381
PubMed 10502777
PubMed 15967699
PubMed 16998287
PubMed 9199563
PubMed 19062534
PubMed 8980283
PubMed 10544227
PubMed 9671269
PubMed 8931691
PubMed 18034201
PubMed 10502777
PubMed 19484379
PubMed 23518715
PubMed 10502777
PubMed 10544227
PubMed 9311736
PubMed 8533760
Source: LSDB
PubMed 20517649
PubMed 10544227
PubMed 22308153
PubMed 8298641
PubMed 21645214
PubMed 23518715
PubMed 23518715
PubMed 21796144
PubMed 22484412
PubMed 9554743
PubMed 12515040
PubMed 8931691
PubMed 9671269
PubMed 17587212
PubMed 15024742
PubMed 10502777
PubMed 14986826
PubMed 11216666
PubMed 7626145
PubMed 7626145
PubMed 21219664
PubMed 10544227
PubMed 15811015
PubMed 8938442
PubMed 14966923
PubMed 22677543
PubMed 12515040
PubMed 15952988
PubMed 14966923
PubMed 9829905
PubMed 10544227
www.ngpd.it
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
Elenco mutazioni NGPD
CM980186
CM990276
CM081179
CM110342
CM076004
CM992825
CM960132
CM980187
CM136090
CM129459
CM080088
CM116729
CM081174
CM061648
CM024204
CM992826
CM994113
CM081176
CM993112
CM983380
CM053127
CM061649
CM104203
CM980188
CM980189
CM1210107
CM139963
CM970146
CM980190
CM061647
CM994114
CM1210108
CM072877
CM1212292
CM994115
CM980191
CM139964
CM016059
CM980192
CM960133
CM053129
CM994682
CM970147
CM992827
CM117985
CM081170
CM081182
CM040683
CM125010
CM133400
CM057645
CM992602
HM060568
GTG‐ATG
ATT‐ACT
GGA‐GCA
GGA‐GAA
CGT‐TGT
CGT‐CAT
TGG‐CGG
TGG‐TGT
TGG‐TAG
CTG‐CCG
CGC‐CAC
GGT‐GTT
GAT‐AAT
GCT‐CCT
GCT‐TCT
ATG‐ACG
ATG‐GTG
GAG‐GGG
GAG‐AAG
GGA‐AGA
GGA‐GAA
ACA‐GCA
CTG‐CCG
GCT‐GGT
GCT‐ACT
ATT‐ACT
GGT‐CGT
GGT‐TGT
GGT‐AGT
GCA‐CCA
GCT‐ACT
CAG‐CCG
CAG‐TAG
GCT‐GGT
CAC‐CGC
GGT‐GTT
GAC‐GGC
GAC‐TAC
GTG‐ATG
ACG‐ATG
GGG‐GAG
GAC‐AAC
GAC‐TAC
GAC‐GTC
AGA‐TGA
AGA‐ACA
ATT‐GTT
ACC‐CCC
CAG‐CCG
GTT‐TTT
ATC‐ACC
GTC‐GGC
GCA‐GTA
Val1146Met
Ile1148Thr
Gly1149Ala
Gly1149Glu
Arg1151Cys
Arg1151His
Trp1153Arg
Trp1153Cys
Trp1153Term
Leu1154Pro
Arg1156His
Gly1158Val
Asp1164Asn
Ala1168Pro
Ala1168Ser
Met1169Thr
Met1169Val
Glu1173Gly
Glu1173Lys
Gly1176Arg
Gly1176Glu
Thr1178Ala
Leu1181Pro
Ala1183Gly
Ala1183Thr
Ile1184Thr
Gly1186Arg
Gly1186Cys
Gly1186Ser
Ala1193Pro
Ala1197Thr
Gln1200Pro
Gln1200Term
Ala1202Gly
His1207Arg
Gly1213Val
Asp1215Gly
Asp1215Tyr
Val1216Met
Thr1220Met
Gly1221Glu
Asp1222Asn
Asp1222Tyr
Asp1222Val
Arg1228Term
Arg1228Thr
Ile1230Val
Thr1232Pro
Gln1233Pro
Val1234Phe
Ile1236Thr
Val1239Gly
Ala1241Val
3436G>A
3443T>C
3446G>C
3446G>A
3451C>T
3452G>A
3457T>C
3459G>T
3458G>A
3461T>C
3467G>A
3473G>T
3490G>A
3502G>C
3502G>T
3506T>C
3505A>G
3518A>G
3517G>A
3526G>A
3527G>A
3532A>G
3542T>C
3548C>G
3547G>A
3551T>C
3556G>C
3556G>T
3556G>A
3577G>C
3589G>A
3599A>C
3598C>T
3605C>G
3620A>G
3638G>T
3644A>G
3643G>T
3646G>A
3659C>T
3662G>A
3664G>A
3664G>T
3665A>T
3682A>T
3683G>C
3688A>G
3694A>C
3698A>C
3700G>T
3707T>C
3716T>G
3722C>T
V1146M
I1148T
G1149A
G1149E
R1151C
R1151H
W1153R
W1153C
W1153*
L1154P
R1156H
G1158V
D1164N
A1168P
A1168S
M1169T
M1169V
E1173G
E1173K
G1176R
G1176E
T1178A
L1181P
A1183G
A1183T
I1184T
G1186R
G1186C
G1186S
A1193P
A1197T
Q1200P
Q1200*
A1202G
H1207R
G1213V
D1215G
D1215Y
V1216M
T1220M
G1221E
D1222N
D1222Y
D1222V
R1228*
R1228T
I1230V
T1232P
Q1233P
V1234F
I1236T
V1239G
A1241V
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Loudianos (1998) Hum Mutat 12:89
Loudianos (1998) Eur J Hum Genet 6:487
Davies (2008) Genet Test 12:139
Li (2011) BMC Med Genet 12:6
Lepori (2007) Genet Test 11:328
Loudianos (1999) J Med Genet 36:833
Waldenstrom (1996) Genomics 37:303
Tsai (1998) Hum Mutat 12:370
Aggarwal (2013) Ann Hum Genet 77:299
Khan (2012) Int J Hum Genet 12:125
Mak (2008) J Hum Genet 53:55
Møller (2011) Eur J Hum Genet 19:935
Davies (2008) Genet Test 12:139
Wan (2006) Biochem Biophys Res Commun 345:734
Yoo (2002) Genet Med 4:43S
Loudianos (1999) J Med Genet 36:833
Thomas (1995) Nat Genet 9:210
Davies (2008) Genet Test 12:139
Loudianos (1999) J Med Genet 36:833
Ha‐Hao (1998) Eur J Hum Genet 6:616
Cox (2005) Hum Mutat 26:280
Wan (2006) Biochem Biophys Res Commun 345:734
Wang (2010) Pediatr Neonatol 51:124
Loudianos (1998) Hum Mutat 12:89
Loudianos (1998) Hum Mutat 12:89
Schushan (2012) Metallomics 4:669
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Shah (1997) Am J Hum Genet 61:317
Yamaguchi (1998) Hum Mutat S1:S320
Wan (2006) Biochem Biophys Res Commun 345:734
Cox (1999) ATP7B LSDB entry Unpublished:
Schushan (2012) Metallomics 4:669
Chappuis (2007) J Trace Elem Med Biol 21:37
Geng (2013) World J Pediatr 9:158
Abdelghaffar (2008) J Hum Genet 53:681
Kalinsky (1998) Hum Mutat 11:145
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Shiono (2001) Am J Gastroenterol 96:3147
Loudianos (1998) Hum Mutat 12:89
Loudianos (1996) Hum Genet 98:640
Cox (2005) Hum Mutat 26:280
Shimizu (1999) Pediatr Int 41:409
Shah (1997) Am J Hum Genet 61:317
Loudianos (1999) J Med Genet 36:833
Wang (2011) J Hum Genet 56:660
Davies (2008) Genet Test 12:139
Davies (2008) Genet Test 12:139
Deguti (2004) Hum Mutat 23:398
Bost (2012) J Trace Elem Med Biol 26:97
Coffey (2013) Brain 136:1476
Todorov (2007) Genet Couns 18:445
Curtis (1999) Hum Mutat 14:304
Santhosh (2006) Hum Genet 119:362
PubMed 9671269
PubMed 9801873
PubMed 18373411
PubMed 21219664
PubMed 17949296
PubMed 10544227
PubMed 8938442
PubMed 9829905
PubMed 23551039
PubMed: No PubMed ID
PubMed 18034201
PubMed 21610751
PubMed 18373411
PubMed 16696937
PubMed 12544487
PubMed 10544227
PubMed 7626145
PubMed 18373411
PubMed 10544227
PubMed 9887381
PubMed 16088907
PubMed 16696937
PubMed 20417464
PubMed 9671269
PubMed 9671269
PubMed 22692182
PubMed 24094725
PubMed 9311736
PubMed 9452121
PubMed 16696937
Source: LSDB
PubMed 22692182
PubMed 17317524
PubMed 23275100
PubMed 18483695
PubMed 9482578
PubMed 24094725
PubMed 11721763
PubMed 9671269
PubMed 8931691
PubMed 16088907
PubMed 10453196
PubMed 9311736
PubMed 10544227
PubMed 21796144
PubMed 18373411
PubMed 18373411
PubMed 15024742
PubMed 22677543
PubMed 23518715
PubMed 18286826
PubMed 10502777
Source: Online submission
www.ngpd.it
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
Elenco mutazioni NGPD
CM1210112
CM139965
CM033335
CM133431
CM962601
CM024205
CM051008
CM040684
CM992828
CM950120
CM110343
CM131494
CM116634
CM970148
CM980193
CM110344
CM081177
CM061650
CM930060
CM994116
CM053795
CM061645
CM960134
CM035477
CM125011
CM133401
CM057646
CM125012
CM139966
CM970149
CM003413
CM053786
CM074058
CM080090
CM125013
CM053123
CM064991
CM075998
CM123061
CM118182
CM136604
CM023025
CM067649
CM110345
CM133439
CM133438
HM060567
CM116730
CM003306
CM139967
CM125014
CM960135
CM139968
CCT‐ACT
CAC‐CAG
AAG‐AAC
GCC‐GGC
GTC‐ATC
CTC‐ATC
CAG‐CGG
AAA‐TAA
GTC‐TTC
GGG‐AGG
GGG‐CGG
GGG‐GAG
GGG‐TGG
GGG‐GTG
GAT‐GCT
GAT‐AAT
GAT‐GTT
GGG‐AGG
AAT‐AGT
AAT‐ACT
GAC‐AAC
CCG‐CAG
CCG‐CTG
CCG‐TCG
GCC‐ACC
GCC‐GTC
CAG‐TAG
GCA‐GGA
GCA‐ACA
GCA‐GTA
GAC‐GGC
GAC‐TAC
GGT‐GAT
GGT‐TGT
GGC‐CGC
GGC‐AGC
ACG‐AGG
ACG‐ATG
GAG‐AAG
GCC‐GAC
GCC‐GTC
GAC‐AAC
GTC‐GAC
GTC‐ATC
GTC‐ATC
GTC‐CTC
CTT‐TTT
TTG‐TTT
CTG‐CCG
GCT‐CCT
GCT‐GTT
AGC‐CGC
CTT‐CCT
Pro1245Thr
His1247Gln
Lys1248Asn
Ala1250Gly
Val1252Ile
Leu1255Ile
Gln1256Arg
Lys1258Term
Val1262Phe
Gly1266Arg
Gly1266Arg
Gly1266Glu
Gly1266Trp
Gly1266Val
Asp1267Ala
Asp1267Asn
Asp1267Val
Gly1268Arg
Asn1270Ser
Asn1270Thr
Asp1271Asn
Pro1273Gln
Pro1273Leu
Pro1273Ser
Ala1274Thr
Ala1274Val
Gln1277Term
Ala1278Gly
Ala1278Thr
Ala1278Val
Asp1279Gly
Asp1279Tyr
Gly1281Asp
Gly1281Cys
Gly1287Arg
Gly1287Ser
Thr1288Arg
Thr1288Met
Glu1293Lys
Ala1295Asp
Ala1295Val
Asp1296Asn
Val1297Asp
Val1297Ile
Val1298Ile
Val1298Leu
Leu1299Phe
Leu1304Phe
Leu1305Pro
Ala1309Pro
Ala1309Val
Ser1310Arg
Leu1313Pro
3733C>A
3741C>G
3744G>C
3749C>G
3754G>A
3763C>A
3767A>G
3772A>T
3784G>T
3796G>A
3796G>C
3797G>A
3796G>T
3797G>T
3800A>C
3799G>A
3800A>T
3802G>A
3809A>G
3809A>C
3811G>A
3818C>A
3818C>T
3817C>T
3820G>A
3821C>T
3829C>T
3833C>G
3832G>A
3833C>T
3836A>G
3835G>T
3842G>A
3841G>T
3859G>C
3859G>A
3863C>G
3863C>T
3877G>A
3884C>A
3884C>T
3886G>A
3890T>A
3889G>A
3892G>A
3892G>C
3895C>T
3912G>T
3914T>C
3925G>C
3926C>T
3928A>C
3938T>C
P1245T
H1247Q
K1248N
A1250G
V1252I
L1255I
Q1256R
K1258*
V1262F
G1266R
G1266R
G1266E
G1266W
G1266V
D1267A
D1267N
D1267V
G1268R
N1270S
N1270T
D1271N
P1273Q
P1273L
P1273S
A1274T
A1274V
Q1277*
A1278G
A1278T
A1278V
D1279G
D1279Y
G1281D
G1281C
G1287R
G1287S
T1288R
T1288M
E1293K
A1295D
A1295V
D1296N
V1297D
V1297I
V1298I
V1298L
L1299F
L1304F
L1305P
A1309P
A1309V
S1310R
L1313P
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Schushan (2012) Metallomics 4:669
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Gu (2003) Clin Genet 64:479
Coffey (2013) Brain 136:1476
Misrahi (1996) ATP7B LSDB entry Unpublished:
Yoo (2002) Genet Med 4:43S
Kumar (2005) Clin Genet 67:443
Deguti (2004) Hum Mutat 23:398
Loudianos (1999) J Med Genet 36:833
Thomas (1995) Nat Genet 9:210
Li (2011) BMC Med Genet 12:6
Li (2013) J Hum Genet 58:67
54:48
Shah (1997) Am J Hum Genet 61:317
Yamaguchi (1998) Hum Mutat S1:S320
Li (2011) BMC Med Genet 12:6
Davies (2008) Genet Test 12:139
Wu (2006) J Mol Med 84:438
Tanzi (1993) Nat Genet 5:344
Todorov (2007) Genet Couns 18:445
Vrabelova (2005) Mol Genet Metab 86:277
Wan (2006) Biochem Biophys Res Commun 345:734
Loudianos (1996) Hum Genet 98:640
Folhoffer (2003) Orv Hetil 144:2509
Bost (2012) J Trace Elem Med Biol 26:97
Coffey (2013) Brain 136:1476
Todorov (2007) Genet Couns 18:445
Bost (2012) J Trace Elem Med Biol 26:97
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Orru (1997) Hum Mutat 10:84
Lee (2000) J Hum Genet 45:275
Todorov (2005) Clin Genet 68:474
Folhoffer (2007) Eur J Gastroenterol Hepatol 19:105
Mak (2008) J Hum Genet 53:55
Bost (2012) J Trace Elem Med Biol 26:97
Cox (2005) Hum Mutat 26:280
Leggio (2006) Dig Dis Sci 51:34
Lepori (2007) Genet Test 11:328
Maria‐Barbara (2012) Mol Cell Probes 26:147
Lee (2011) Liver Int 31:831
Gu (2013) PLoS One 8:e66526
Ohya (2002) Eur J Pediatr 161:124
Santhosh (2006) Indian J Gastroenterol 25:277
Li (2011) BMC Med Genet 12:6
Coffey (2013) Brain 136:1476
Coffey (2013) Brain 136:1476
Santhosh (2006) Hum Genet 119:362
Møller (2011) Eur J Hum Genet 19:935
Genschel (2000) Hum Mutat 17:156
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Bost (2012) J Trace Elem Med Biol 26:97
Loudianos (1996) Hum Genet 98:640
Mukherjee (2014) Parkinsonism Relat Disord 20:75
PubMed 22692182
PubMed 24094725
PubMed 14986826
PubMed 23518715
Source: LSDB
PubMed 12544487
PubMed 15811015
PubMed 15024742
PubMed 10544227
PubMed 7626145
PubMed 21219664
PubMed 23235335
PubMed 21832955
PubMed 9311736
PubMed 9452121
PubMed 21219664
PubMed 18373411
PubMed 16649058
PubMed 8298641
PubMed 18286826
PubMed 15967699
PubMed 16696937
PubMed 8931691
PubMed 14974157
PubMed 22677543
PubMed 23518715
PubMed 18286826
PubMed 22677543
PubMed 24094725
PubMed 9222767
PubMed 11043508
PubMed 16207219
PubMed 17272994
PubMed 18034201
PubMed 22677543
PubMed 16088907
PubMed 16416207
PubMed 17949296
PubMed 22484412
PubMed 21645214
PubMed 23843956
PubMed 11954751
PubMed 17264425
PubMed 21219664
PubMed 23518715
PubMed 23518715
Source: Online submission
PubMed 21610751
PubMed 11180609
PubMed 24094725
PubMed 22677543
PubMed 8931691
PubMed 24094725
www.ngpd.it
Elenco mutazioni NGPD
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
CM133402
CM950121
CM080086
CM139969
CM970150
CM125015
CM993113
CM081180
CM125016
CM133403
CM053132
CM082496
CM075996
CM080092
CM110346
CM001616
CM082493
CM980194
CM043970
CM053131
TCC‐TGC
CGA‐TGA
AGG‐AGC
ATA‐AAA
CGC‐CCC
AAC‐AGC
CTG‐GTG
GCA‐ACA
CTG‐CCG
TAT‐TGT
TAT‐TCT
AAC‐GAC
AAC‐AAA
GTT‐GAT
GGG‐CGG
ATA‐ACA
GGT‐CGT
GGT‐GAT
GGT‐AGT
GGT‐GTT
Ser1314Cys
Arg1319Term
Arg1320Ser
Ile1321Lys
Arg1322Pro
Asn1324Ser
Leu1327Val
Ala1328Thr
Leu1329Pro
Tyr1331Cys
Tyr1331Ser
Asn1332Asp
Asn1332Lys
Val1334Asp
Gly1335Arg
Ile1336Thr
Gly1341Arg
Gly1341Asp
Gly1341Ser
Gly1341Val
3941C>G
3955C>T
3960G>C
3962T>A
3965G>C
3971A>G
3979C>G
3982G>A
3986T>C
3992A>G
3992A>C
3994A>G
3996C>A
4001T>A
4003G>C
4007T>C
4021G>C
4022G>A
4021G>A
4022G>T
S1314C
R1319*
R1320S
I1321K
R1322P
N1324S
L1327V
A1328T
L1329P
Y1331C
Y1331S
N1332D
N1332K
V1334D
G1335R
I1336T
G1341R
G1341D
G1341S
G1341V
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
ATP7B
CM141676
CM107541
CM003307
CM076002
CM057647
CM053790
CM081175
CM992603
CM107542
CM053791
CM960136
CM136087
CM980195
CM081171
CM1010231
CM139970
CM992829
CM053788
CM076009
HM971560
CM032852
CM040685
CM001617
CM053133
CM053125
CM107543
CM082497
CM139971
CM133432
CM133433
CM992830
GGC‐AGC
ATT‐AAT
CAG‐TAG
CCC‐CGC
CCC‐CTC
CCC‐TCC
TGG‐AGG
TGG‐TAG
GGC‐GAC
GGC‐TGC
GGC‐AGC
GCG‐GTG
GCC‐TCC
ATG‐ATC
ATG‐GTG
TCC‐GCC
TCT‐TTT
CTC‐CCC
TCA‐TTA
CTG‐CCG
CAG‐TAG
CTC‐CGC
CTC‐CCC
TGC‐TCC
CCT‐TCT
ATG‐AAG
TGG‐TGA
AGC‐ATC
TCC‐TAC
TCC‐TTC
ACG‐ATG
Gly1347Ser
Ile1348Asn
Gln1351Term
Pro1352Arg
Pro1352Leu
Pro1352Ser
Trp1353Arg
Trp1353Term
Gly1355Asp
Gly1355Cys
Gly1355Ser
Ala1357Val
Ala1358Ser
Met1359Ile
Met1359Val
Ser1362Ala
Ser1363Phe
Leu1368Pro
Ser1369Leu
Leu1371Pro
Gln1372Term
Leu1373Arg
Leu1373Pro
Cys1375Ser
Pro1379Ser
Met1392Lys
Trp1410Term
Ser1426Ile
Ser1431Tyr
Ser1432Phe
Thr1434Met
4039G>A
4043T>A
4051C>T
4055C>G
4055C>T
4054C>T
4057T>A
4058G>A
4064G>A
4063G>T
4063G>A
4070C>T
4072G>T
4077G>C
4075A>G
4084T>G
4088C>T
4103T>C
4106C>T
4112T>C
4114C>T
4118T>G
4118T>C
4124G>C
4135C>T
4175T>A
4230G>A
4277G>T
4292C>A
4295C>T
4301C>T
G1347S
I1348N
Q1351*
P1352R
P1352L
P1352S
W1353R
W1353*
G1355D
G1355C
G1355S
A1357V
A1358S
M1359I
M1359V
S1362A
S1363F
L1368P
S1369L
L1371P
Q1372*
L1373R
L1373P
C1375S
P1379S
M1392K
W1410*
S1426I
S1431Y
S1432F
T1434M
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease with neuropsychiatric decline
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Wilson disease
Coffey (2013) Brain 136:1476
Thomas (1995) Nat Genet 9:210
Mak (2008) J Hum Genet 53:55
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Shah (1997) Am J Hum Genet 61:317
Bost (2012) J Trace Elem Med Biol 26:97
Loudianos (1999) J Med Genet 36:833
Davies (2008) Genet Test 12:139
Bost (2012) J Trace Elem Med Biol 26:97
Coffey (2013) Brain 136:1476
Cox (2005) Hum Mutat 26:280
Abdelghaffar (2008) J Hum Genet 53:681
Lepori (2007) Genet Test 11:328
Mak (2008) J Hum Genet 53:55
Li (2011) BMC Med Genet 12:6
Okada (2000) Hum Mutat 15:454
Abdelghaffar (2008) J Hum Genet 53:681
Loudianos (1998) Hum Mutat 12:89
Majamdar (2004) Eur Neurol 51:52
Cox (2005) Hum Mutat 26:280
PubMed 23518715
PubMed 7626145
PubMed 18034201
PubMed 24094725
PubMed 9311736
PubMed 22677543
PubMed 10544227
PubMed 18373411
PubMed 22677543
PubMed 23518715
PubMed 16088907
PubMed 18483695
PubMed 17949296
PubMed 18034201
PubMed 21219664
PubMed 10790207
PubMed 18483695
PubMed 9671269
PubMed 14639035
PubMed 16088907
Forbes (2014) BMC Med Genet 15:22
Wan (2010) Hepatology 52:1662
Genschel (2000) Hum Mutat 17:156
Lepori (2007) Genet Test 11:328
Todorov (2005) ATP7B LSDB entry Unpublished:.
Todorov (2005) Clin Genet 68:474
Gojová (2008) Clin Genet 73:441
Curtis (1999) Hum Mutat 14:304
Wan (2010) Hepatology 52:1662
Vrabelova (2005) Mol Genet Metab 86:277
Waldenstrom (1996) Genomics 37:303
Aggarwal (2013) Ann Hum Genet 77:299
Loudianos (1998) Hum Mutat 12:89
Davies (2008) Genet Test 12:139
Treepongkaruna (2010) Asian Biomed 4:163
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Loudianos (1999) J Med Genet 36:833
Todorov (2005) Clin Genet 68:474
Lepori (2007) Genet Test 11:328
Chan (2000) Hum Genet 106:464
Gu (2003) Clin Genet 64:479
Deguti (2004) Hum Mutat 23:398
Okada (2000) Hum Mutat 15:454
Cox (2005) Hum Mutat 26:280
Cox (2005) Hum Mutat 26:280
Wan (2010) Hepatology 52:1662
Abdelghaffar (2008) J Hum Genet 53:681
Mukherjee (2014) Parkinsonism Relat Disord 20:75
Coffey (2013) Brain 136:1476
Coffey (2013) Brain 136:1476
Loudianos (1999) J Med Genet 36:833
PubMed 24555712
PubMed 20931554
PubMed 11180609
PubMed 17949296
Source: LSDB
PubMed 16207219
PubMed 18371106
PubMed 10502777
PubMed 20931554
PubMed 15967699
PubMed 8938442
PubMed 23551039
PubMed 9671269
PubMed 18373411
PubMed: No PubMed ID
PubMed 24094725
PubMed 10544227
PubMed 16207219
PubMed 17949296
Source: Online submission
PubMed 14986826
PubMed 15024742
PubMed 10790207
PubMed 16088907
PubMed 16088907
PubMed 20931554
PubMed 18483695
PubMed 24094725
PubMed 23518715
PubMed 23518715
PubMed 10544227
www.ngpd.it
Elenco mutazioni NGPD
ATP7B
ATP7B
ATR
ATR
CM107544
CM043447
CM1211469
CM112377
GCA‐CCA
TGA‐CGA
ATG‐ATT
GAA‐TAA
Ala1445Pro
Term1466Arg
Met1159Ile
Glu1356Term
4333G>C
4396T>C
3477G>T
4066G>T
A1445P
*1466R
M1159I
E1356*
Wilson disease
Wilson disease
Seckel syndrome
Seckel syndrome
Wan (2010) Hepatology 52:1662
Panagiotakaki (2004) Am J Med Genet 131A:168
Ogi (2012) PLoS Genet 8:e1002945
Bell (2011) Sci Transl Med 3:65ra4
PubMed 20931554
PubMed 15523622
PubMed 23144622
PubMed 21228398
BBS1
CM085269
ATG‐GTG
Met1Val
1A>G
M1V
Bardet‐Biedl syndrome
Gerth (2008) Vision Res 48:392
PubMed 17980398
BBS1
CM085270
GAT‐GAC
Asp8Asp
24T>C
D8D
Bardet‐Biedl syndrome
Gerth (2008) Vision Res 48:392
PubMed 17980398
BBS1
CM031128
CAC‐CGC
His35Arg
104A>G
H35R
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM031129
AAG‐GAG
Lys53Glu
157A>G
K53E
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM102549
GGA‐TGA
Gly73Term
217G>T
G73*
Bardet‐Biedl syndrome
Muller (2010) Hum Genet 127:583
PubMed 20177705
BBS1
CM030408
TAT‐TAG
Tyr113Term
339T>G
Y113*
Bardet‐Biedl syndrome
Mykytyn (2003) Am J Hum Genet 72:429
PubMed 12524598
BBS1
CM031130
CAA‐TAA
Gln128Term
382C>T
Q128*
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM031131
CGA‐TGA
Arg146Term
436C>T
R146*
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM031132
GAC‐AAC
Asp148Asn
442G>A
D148N
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM102551
CAG‐TAG
Gln170Term
508C>T
Q170*
Bardet‐Biedl syndrome
Muller (2010) Hum Genet 127:583
PubMed 20177705
BBS1
CM111293
TTG‐GTG
Leu206Val
616T>G
L206V
Bardet‐Biedl syndrome
Janssen (2011) Hum Genet 129:79
PubMed 21052717
BBS1
CM127325
GAG‐AAG
Glu224Lys
670G>A
E224K
Bardet‐Biedl syndrome
Redin (2012) J Med Genet 49:502
PubMed 22773737
BBS1
CM030643
GAG‐AAG
Glu234Lys
700G>A
E234K
Bardet‐Biedl syndrome
Badano (2003) Am J Hum Genet 72:650
PubMed 12567324
BBS1
CM111295
CCC‐CTC
Pro245Leu
734C>T
P245L
Bardet‐Biedl syndrome
Janssen (2011) Hum Genet 129:79
PubMed 21052717
BBS1
CM1210214
CGC‐CCC
Arg268Pro
803G>C
R268P
Bardet‐Biedl syndrome
Estrada‐Cuzcano (2012) Arch Ophthalmol 130:1425
PubMed 23143442
BBS1
CM111644
AGA‐AAA
Arg277Lys
830G>A
R277K
Bardet‐Biedl syndrome
Feuillan (2011) J Clin Endocrinol Metab 96:E528
PubMed 21209035
BBS1
CM102552
CTG‐CGG
Leu288Arg
863T>G
L288R
Bardet‐Biedl syndrome
Muller (2010) Hum Genet 127:583
PubMed 20177705
BBS1
CM031133
CAG‐TAG
Gln291Term
871C>T
Q291*
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM031134
GGC‐AGC
Gly305Ser
913G>A
G305S
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM114516
ATC‐ACC
Ile330Thr
989T>C
I330T
Bardet‐Biedl syndrome
Deveault (2011) Hum Mutat 32:610
PubMed 21344540
BBS1
CM051391
GAG‐TAG
Glu384Term
1150G>T
E384*
Bardet‐Biedl syndrome
Hichri (2005) Eur J Hum Genet 13:607
PubMed 15770229
BBS1
CM021489
ATG‐AGG
Met390Arg
1169T>G
M390R
Bardet‐Biedl syndrome
Mykytyn (2002) Nat Genet 31:435
PubMed 12118255
BBS1
CM031135
CGA‐TGA
Arg429Term
1285C>T
R429*
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM031136
TAC‐TCC
Tyr434Ser
1301A>C
Y434S
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM030409
CGA‐TGA
Arg440Term
1318C>T
R440*
Bardet‐Biedl syndrome
Mykytyn (2003) Am J Hum Genet 72:429
PubMed 12524598
BBS1
CM031137
CGA‐TGA
Arg483Term
1447C>T
R483*
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
BBS1
CM117337
CGT‐CAT
Arg512His
1535G>A
R512H
Bardet‐Biedl syndrome
Chen (2011) Invest Ophthalmol Vis Sci 52:5317
PubMed 21642631
BBS1
CM031138
CTG‐CAG
Leu518Gln
1553T>A
L518Q
Bardet‐Biedl syndrome
Beales (2003) Am J Hum Genet 72:1187
PubMed 12677556
www.ngpd.it
Elenco mutazioni NGPD
BBS1
CM030410
CTG‐CCG
Leu518Pro
1553T>C
L518P
Bardet‐Biedl syndrome
Mykytyn (2003) Am J Hum Genet 72:429
PubMed 12524598
BBS1
CM063860
CTC‐CAC
Leu544His
1631T>A
L544H
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS1
CM021490
GAG‐TAG
Glu549Term
1645G>T
E549*
Bardet‐Biedl syndrome
Mykytyn (2002) Nat Genet 31:435
PubMed 12118255
BBS10
CM064992
GTG‐GGG
Val11Gly
32T>G
V11G
Bardet‐Biedl syndrome
Laurier (2006) Eur J Hum Genet 14:1195
PubMed 16823392
BBS10
CM111658
CCC‐CTC
Pro31Leu
92C>T
P31L
Bardet‐Biedl syndrome
Feuillan (2011) J Clin Endocrinol Metab 96:E528
PubMed 21209035
BBS10
CM063866
CGG‐CCG
Arg34Pro
101G>C
R34P
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM102572
GGC‐GAC
Gly43Asp
128G>A
G43D
Bardet‐Biedl syndrome
Muller (2010) Hum Genet 127:583
PubMed 20177705
BBS10
CM063864
CGG‐TGG
Arg49Trp
145C>T
R49W
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM104172
CTG‐CCG
Leu55Pro
164T>C
L55P
Bardet‐Biedl syndrome
Billingsley (2010) J Med Genet 47:453
PubMed 20472660
BBS10
CM107963
CAT‐CGT
His62Arg
185A>G
H62R
Bardet‐Biedl syndrome
Putoux (2010) J Med Genet 47:848
PubMed 20805367
BBS10
CM063874
TGC‐TGG
Cys91Trp
273C>G
C91W
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM127335
AGA‐AGT
Arg95Ser
285A>T
R95S
Bardet‐Biedl syndrome
Redin (2012) J Med Genet 49:502
PubMed 22773737
BBS10
CM111659
GAC‐AAC
Asp142Asn
424G>A
D142N
Bardet‐Biedl syndrome
Feuillan (2011) J Clin Endocrinol Metab 96:E528
PubMed 21209035
BBS10
CM111656
TCG‐TAG
Ser158Term
473C>A
S158*
Bardet‐Biedl syndrome
Feuillan (2011) J Clin Endocrinol Metab 96:E528
PubMed 21209035
BBS10
CM063876
TTA‐TCA
Leu170Ser
509T>C
L170S
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM102430
TAC‐TGC
Tyr177Cys
530A>G
Y177C
Bardet‐Biedl syndrome
Harville (2010) J Med Genet 47:262
PubMed 19797195
BBS10
CM111274
GGA‐GAA
Gly180Glu
539G>A
G180E
Bardet‐Biedl syndrome
Janssen (2011) Hum Genet 129:79
PubMed 21052717
BBS10
CM104173
AAA‐ACA
Lys188Thr
563A>C
K188T
Bardet‐Biedl syndrome
Billingsley (2010) J Med Genet 47:453
PubMed 20472660
BBS10
CM063875
TGT‐TGG
Cys195Trp
585T>G
C195W
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM063870
TAC‐TGC
Tyr197Cys
590A>G
Y197C
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM063869
GTG‐GGG
Val240Gly
719T>G
V240G
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM101928
ATG‐ATA
Met255Ile
765G>A
M255I
Bardet‐Biedl syndrome
Hjortshøj (2010) Hum Mutat 31:429
PubMed 20120035
BBS10
CM111285
CAT‐CCT
His300Pro
899A>C
H300P
Bardet‐Biedl syndrome
Janssen (2011) Hum Genet 129:79
PubMed 21052717
BBS10
CM063878
TTG‐TTT
Leu308Phe
924G>T
L308F
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM144739
CTC‐CCC
Leu309Pro
926T>C
L309P
Bardet‐Biedl syndrome
Lindstrand (2014) Am J Hum Genet 94:745
PubMed 24746959
BBS10
CM063863
TCT‐GCT
Ser311Ala
931T>G
S311A
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM063872
TAT‐TAG
Tyr321Term
963T>G
Y321*
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM117342
GCA‐GTA
Ala323Val
968C>T
A323V
Bardet‐Biedl syndrome
Chen (2011) Invest Ophthalmol Vis Sci 52:5317
PubMed 21642631
BBS10
CM063873
TCA‐TTA
Ser329Leu
986C>T
S329L
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM130326
CAG‐TAG
Gln359Term
1075C>T
Q359*
Bardet‐Biedl syndrome
Khan (2013) Gene 515:84
PubMed 23219996
www.ngpd.it
Elenco mutazioni NGPD
BBS10
CM063865
CCT‐CTT
Pro363Leu
1088C>T
P363L
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM104175
CAT‐CAG
His410Gln
1230T>G
H410Q
Bardet‐Biedl syndrome
Billingsley (2010) J Med Genet 47:453
PubMed 20472660
BBS10
CM063877
TTA‐TCA
Leu414Ser
1241T>C
L414S
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM111286
GCA‐GTA
Ala417Val
1250C>T
A417V
Bardet‐Biedl syndrome
Janssen (2011) Hum Genet 129:79
PubMed 21052717
BBS10
CM122040
TAT‐TAG
Tyr455Term
1365T>G
Y455*
Bardet‐Biedl syndrome
Abu‐Safieh (2012) Eur J Hum Genet 20:420
PubMed 22353939
BBS10
CM111287
TAT‐TAG
Tyr469Term
1407T>G
Y469*
Bardet‐Biedl syndrome
Janssen (2011) Hum Genet 129:79
PubMed 21052717
BBS10
CM117343
GAA‐TAA
Glu499Term
1495G>T
E499*
Bardet‐Biedl syndrome
Chen (2011) Invest Ophthalmol Vis Sci 52:5317
PubMed 21642631
BBS10
CM111301
AGA‐AGC
Arg530Ser
1590A>C
R530S
Bardet‐Biedl syndrome
Janssen (2011) Hum Genet 129:79
PubMed 21052717
BBS10
CM104174
TAC‐TAA
Tyr559Term
1677C>A
Y559*
Bardet‐Biedl syndrome
Billingsley (2010) J Med Genet 47:453
PubMed 20472660
BBS10
CM063862
AAG‐AGG
Lys579Arg
1736A>G
K579R
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM114533
TTG‐TCG
Leu600Ser
1799T>C
L600S
Bardet‐Biedl syndrome
Deveault (2011) Hum Mutat 32:610
PubMed 21344540
BBS10
CM111661
GTA‐CTA
Val602Leu
1804G>C
V602L
Bardet‐Biedl syndrome
Feuillan (2011) J Clin Endocrinol Metab 96:E528
PubMed 21209035
BBS10
CM111660
GGT‐AGT
Gly603Ser
1807G>A
G603S
Bardet‐Biedl syndrome
Feuillan (2011) J Clin Endocrinol Metab 96:E528
PubMed 21209035
BBS10
CM063871
TAT‐TGT
Tyr613Cys
1838A>G
Y613C
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM063867
TAT‐CAT
Tyr613His
1837T>C
Y613H
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM101926
CAA‐TAA
Gln623Term
1867C>T
Q623*
Bardet‐Biedl syndrome
Hjortshøj (2010) Hum Mutat 31:429
PubMed 20120035
BBS10
CM109951
GCA‐GTA
Asp636Val
1907C>T
A636V
Bardet‐Biedl syndrome
Billingsley (2010) J Med Genet 47:453
PubMed 20472660
BBS10
CM063868
GGT‐GTT
Gly677Val
2030G>T
G677V
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
CM101927
CTA‐CCA
Leu687Pro
2060T>C
L687P
Bardet‐Biedl syndrome
Hjortshøj (2010) Hum Mutat 31:429
PubMed 20120035
BBS10
CM063861
ACT‐CCT
Thr689Pro
2065A>C
T689P
Bardet‐Biedl syndrome
Stoetzel (2006) Nat Genet 38:521
PubMed 16582908
BBS10
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
CM104176
CM072896
CM112340
CM950137
CM973006
CM072901
CM072904
CM072892
CM072903
CM072897
CM973007
CM952086
CM973008
CM994683
CM950138
CM003917
CM072902
CAC‐CGC
TCA‐TAA
TCA‐TAA
AAG‐TAG
AGA‐TGA
TGG‐TGA
TTA‐TAA
CAA‐TAA
TGG‐TGA
TCA‐TAA
CAA‐TAA
CAG‐CGG
CAG‐TAG
CAG‐TAG
ATC‐ACC
TGC‐CGC
TGG‐TGA
His715Arg
Ser104Term
Ser106Term
Lys272Term
Arg364Term
Trp428Term
Leu543Term
Gln548Term
Trp567Term
Ser595Term
Gln645Term
Gln672Arg
Gln700Term
Gln752Term
Ile841Thr
Cys878Arg
Trp881Term
2144A>G
311C>A
317C>A
814A>T
1090A>T
1284G>A
1628T>A
1642C>T
1701G>A
1784C>A
1933C>T
2015A>G
2098C>T
2254C>T
2522T>C
2632T>C
2643G>A
H715R
S104*
S106*
K272*
R364*
W428*
L543*
Q548*
W567*
S595*
Q645*
Q672R
Q700*
Q752*
I841T
C878R
W881*
Bardet‐Biedl syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Bloom syndrome
Billingsley (2010) J Med Genet 47:453
German (2007) Hum Mutat 28:743
Bell (2011) Sci Transl Med 3:65ra4
Ellis (1995) Cell 83:655
German (2007) Hum Mutat 28:743
German (2007) Hum Mutat 28:743
German (2007) Hum Mutat 28:743
German (2007) Hum Mutat 28:743
German (2007) Hum Mutat 28:743
German (2007) Hum Mutat 28:743
German (2007) Hum Mutat 28:743
Ellis (1995) Cell 83:655
German (2007) Hum Mutat 28:743
German (2007) Hum Mutat 28:743
Ellis (1995) Cell 83:655
Barakat (2000) Hum Mutat 15:584
German (2007) Hum Mutat 28:743
PubMed 20472660
PubMed 17407155
PubMed 21228398
PubMed 7585968
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 7585968
PubMed 17407155
PubMed 17407155
PubMed 7585968
PubMed 10862105
PubMed 17407155
www.ngpd.it
Elenco mutazioni NGPD
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BLM
BRAF
BRAF
BRAF
CM973009
CM973010
CM973011
CM072888
CM087770
CM072894
CM072899
CM970166
CM072889
CM072905
CM072906
CM950139
CM072893
CM072900
CM072898
CM072891
CM072895
CM072890
CM092078
CM092077
CM076028
GGG‐GAG
CGA‐TGA
TGT‐TAT
CAG‐TAG
CAG‐TAG
GGG‐GTG
CAT‐TAT
TGC‐TTC
CAG‐TAG
TGT‐CGT
TGT‐GGT
TGT‐TCT
GAT‐GTT
TGC‐TAC
TCA‐TGA
CGA‐TGA
TAT‐TAA
CAG‐TAG
ACG‐AGG
ACG‐ATG
ACG‐CCG
Gly891Glu
Arg899Term
Cys901Tyr
Gln909Term
Gln941Term
Gly952Val
His963Tyr
Cys1036Phe
Gln1040Term
Cys1055Arg
Cys1055Gly
Cys1055Ser
Asp1064Val
Cys1066Tyr
Ser1093Term
Arg1139Term
Tyr1170Term
Gln1283Term
Thr241Arg
Thr241Met
Thr241Pro
2672G>A
2695C>T
2702G>A
2725C>T
2821C>T
2855G>T
2887C>T
3107G>T
3118C>T
3163T>C
3163T>G
3164G>C
3191A>T
3197G>A
3278C>G
3415C>T
3510T>A
3847C>T
722C>G
722C>T
721A>C
G891E
R899*
C901Y
Q909*
Q941*
G952V
H963Y
C1036F
Q1040*
C1055R
C1055G
C1055S
D1064V
C1066Y
S1093*
R1139*
Y1170*
Q1283*
T241R
T241M
T241P
BRAF
CM072907
ACC‐CCC
Thr244Pro
730A>C
T244P
BRAF
CM092081
TTA‐TTT
Leu245Phe
735A>T
L245F
BRAF
CM060871
GCA‐CCA
Ala246Pro
736G>C
A246P
BRAF
CM060874
CAG‐CGG
Gln257Arg
770A>G
Q257R
BRAF
CM071572
CAG‐AAG
Gln257Lys
769C>A
Q257K
BRAF
CM076029
CAA‐CGA
Gln262Arg
785A>G
Q262R
BRAF
CM080111
CAA‐AAA
Gln262Lys
784C>A
Q262K
BRAF
BRAF
CM092082
CM137740
GAA‐AAA
AGA‐GGA
Glu275Lys
Arg384Gly
823G>A
1150A>G
E275K
R384G
BRAF
HM070099
GGA‐CGA
Gly464Arg
1390G>C
G464R
BRAF
CM086781
GGA‐GTA
Gly464Val
1391G>T
G464V
BRAF
CM115083
GGA‐GAA
Gly466Glu
1397G>A
G466E
BRAF
CM060872
TCA‐GCA
Ser467Ala
1399T>G
S467A
BRAF
CM060881
TTT‐TCT
Phe468Ser
1403T>C
F468S
BRAF
BM1457681
GGA‐CGA
Gly469Arg
1405G>C
G469R
BRAF
CM060876
GGA‐GAA
Gly469Glu
1406G>A
G469E
BRAF
CM123144
ACA‐CCA
Thr470Pro
1408A>C
T470P
BRAF
CM123146
GTC‐TTC
Val471Phe
1411G>T
V471F
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
Amor‐Guéret (2008) Genet Test 12:257
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
Foucault (1997) Hum Mol Genet 6:1427
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
Ellis (1995) Cell 83:655
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Bloom syndrome
German (2007) Hum Mutat 28:743
Noonan syndrome
Sarkozy (2009) Hum Mutat 30:695
Noonan syndrome
Sarkozy (2009) Hum Mutat 30:695
Costello syndrome
Nava (2007) J Med Genet 44:763
Cardio‐facio‐cutaneous syndrome
Gripp (2007) Am J Med Genet A 143A:1472
Cardio‐facio‐cutaneous syndrome
Sarkozy (2009) Hum Mutat 30:695
Cardio‐facio‐cutaneous syndrome
Niihori (2006) Nat Genet 38:294
Cardio‐facio‐cutaneous syndrome
Niihori (2006) Nat Genet 38:294
Cardio‐facio‐cutaneous syndrome
Narumi (2007) Am J Med Genet A 143A:799
Cardio‐facio‐cutaneous syndrome
Nava (2007) J Med Genet 44:763
Cardio‐facio‐cutaneous syndrome
Schulz (2008) Clin Genet 73:62
Cardio‐facio‐cutaneous syndrome
Sarkozy (2009) Hum Mutat 30:695
Noonan syndrome
Croonen (2013) Eur J Hum Genet 21:936
Cardio‐facio‐cutaneous syndrome
Cave (2008) Hum Genet 123:108
Cardio‐facio‐cutaneous syndrome
Rodriguez‐Viciana (2008) Methods Enzymol 438:277
Cardio‐facio‐cutaneous syndrome
Siegel (2011) Br J Dermatol 164:521
Cardio‐facio‐cutaneous syndrome
Rodriguez‐Viciana (2006) Science 311:1287
Cardio‐facio‐cutaneous syndrome
Rodriguez‐Viciana (2006) Science 311:1287
Cardio‐facio‐cutaneous syndrome
Terry (2014) Pediatr Dev Pathol 17:59
Cardio‐facio‐cutaneous syndrome
Niihori (2006) Nat Genet 38:294
Cardio‐facio‐cutaneous syndrome
Quaio (2012) Am J Med Genet A 158A:1077
Cardio‐facio‐cutaneous syndrome
Abe (2012) Am J Med Genet A 158A:1083
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 18471088
PubMed 17407155
PubMed 17407155
PubMed 9285778
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 7585968
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 17407155
PubMed 19206169
PubMed 19206169
PubMed 17704260
PubMed 17551924
PubMed 19206169
PubMed 16474404
PubMed 16474404
PubMed 17366577
PubMed 17704260
PubMed 18042262
PubMed 19206169
PubMed 23321623
Source: Online submission
PubMed 18413255
PubMed 21062266
PubMed 16439621
PubMed 16439621
PubMed 24303953
PubMed 16474404
PubMed 22488759
PubMed 22495831
www.ngpd.it
Elenco mutazioni NGPD
BRAF
CM1314446
GCA‐GAA
Ala481Glu
1442C>A
A481E
BRAF
CM060880
TTG‐TTC
Leu485Phe
1455G>C
L485F
BRAF
CM086782
TTG‐TCG
Leu485Ser
1454T>C
L485S
BRAF
BRAF
CM071573
CM1211842
GTG‐GGG
TTC‐TAC
Val487Gly
Phe498Tyr
1460T>G
1493T>A
V487G
F498Y
BRAF
CM080110
AAA‐AAC
Lys499Asn
1497A>C
K499N
BRAF
CM060873
AAA‐GAA
Lys499Glu
1495A>G
K499E
BRAF
CM060875
GAA‐GGA
Glu501Gly
1502A>G
E501G
BRAF
CM060879
GAA‐AAA
Glu501Lys
1501G>A
E501K
BRAF
CM076030
GAA‐GTA
Glu501Val
1502A>T
E501V
BRAF
BRAF
CM072908
CM092079
CTG‐CCG
TGG‐TGC
Leu525Pro
Trp531Cys
1574T>C
1593G>C
L525P
W531C
BRAF
CM062462
GGC‐CGC
Gly534Arg
1600G>C
G534R
BRAF
CM072909
GAT‐GAG
Asp565Glu
1695T>G
D565E
BRAF
CM140992
GAT‐GGT
Asp565Gly
1694A>G
D565G
BRAF
CM071574
AAT‐GAT
Asn580Asp
1738A>G
N580D
BRAF
CM060878
AAT‐GAT
Asn581Asp
1741A>G
N581D
BRAF
CM080112
TTT‐TTA
Phe595Leu
1785T>A
F595L
BRAF
CM060882
TTT‐TTG
Phe595Leu
1785T>G
F595L
BRAF
BRAF
CM060877
CM092080
GGT‐GTT
CTA‐GTA
Gly596Val
Leu597Val
1787G>T
1789C>G
G596V
L597V
BRAF
CM086780
ACA‐AGA
Thr599Arg
1796C>G
T599R
BRAF
CM112509
GTG‐GGG
Val600Gly
1799T>G
V600G
BRAF
CM092083
AAA‐CAA
Lys601Gln
1801A>C
K601Q
BRAF
CM140993
AAA‐ATA
Lys601Ile
1802A>T
K601I
BRAF
CM123147
AAA‐ACA
Lys601Thr
1802A>C
K601T
BRAF
CM062461
GAT‐GAA
Asp638Glu
1914T>A
D638E
BRAF
CM092084
GAT‐GAG
Asp638Glu
1914T>G
D638E
BRAF
CM092085
CAA‐CGA
Gln709Arg
2126A>G
Q709R
Cardio‐facio‐cutaneous syndrome
Hazan (2013) Iran J Pediatr 23:608
Cardio‐facio‐cutaneous syndrome
Niihori (2006) Nat Genet 38:294
Cardio‐facio‐cutaneous syndrome
Rodriguez‐Viciana (2008) Methods Enzymol 438:277
Cardio‐facio‐cutaneous syndrome
Narumi (2007) Am J Med Genet A 143A:799
Noonan syndrome
Cheon (2012) Horm Res 78S1:203
Cardio‐facio‐cutaneous syndrome
Schulz (2008) Clin Genet 73:62
Cardio‐facio‐cutaneous syndrome
Niihori (2006) Nat Genet 38:294
Cardio‐facio‐cutaneous syndrome
Niihori (2006) Nat Genet 38:294
Cardio‐facio‐cutaneous syndrome
Niihori (2006) Nat Genet 38:294
Cardio‐facio‐cutaneous syndrome
Nava (2007) J Med Genet 44:763
Cardio‐facio‐cutaneous syndrome
Gripp (2007) Am J Med Genet A 143A:1472
Noonan syndrome
Sarkozy (2009) Hum Mutat 30:695
Cardio‐facio‐cutaneous syndrome
Rauen (2006) Am J Med Genet A 140A:1681
Cardio‐facio‐cutaneous syndrome
Gripp (2007) Am J Med Genet A 143A:1472
Noonan syndrome / cardio‐facio‐cutaneous syndrome
Lepri (2014) BMC Med Genet 15:
Cardio‐facio‐cutaneous syndrome
Narumi (2007) Am J Med Genet A 143A:799
Cardio‐facio‐cutaneous syndrome
Niihori (2006) Nat Genet 38:294
Cardio‐facio‐cutaneous syndrome
Schulz (2008) Clin Genet 73:62
Cardio‐facio‐cutaneous syndrome
Rodriguez‐Viciana (2006) Science 311:1287
Cardio‐facio‐cutaneous syndrome
Rodriguez‐Viciana (2006) Science 311:1287
Noonan syndrome
Sarkozy (2009) Hum Mutat 30:695
Cardio‐facio‐cutaneous syndrome
Rodriguez‐Viciana (2008) Methods Enzymol 438:277
Cardio‐facio‐cutaneous syndrome
Champion (2011) Clin Genet 79:468
Cardio‐facio‐cutaneous syndrome
Sarkozy (2009) Hum Mutat 30:695
Cardio‐facio‐cutaneous syndrome
Lepri (2014) BMC Med Genet 15:
Cardio‐facio‐cutaneous syndrome
Abe (2012) Am J Med Genet A 158A:1083
Cardio‐facio‐cutaneous syndrome
Rauen (2006) Am J Med Genet A 140A:1681
Cardio‐facio‐cutaneous syndrome
Sarkozy (2009) Hum Mutat 30:695
Cardio‐facio‐cutaneous syndrome
Sarkozy (2009) Hum Mutat 30:695
CBL
CM105116
CAA‐CCA
Gln367Pro
1100A>C
Q367P
Noonan‐like syndrome
Martinelli (2010) Am J Hum Genet 87:250
PubMed 20619386
CBL
CM105117
AAA‐GAA
Lys382Glu
1144A>G
K382E
Noonan‐like syndrome
Martinelli (2010) Am J Hum Genet 87:250
PubMed 20619386
PubMed 24800029
PubMed 16474404
PubMed 18413255
PubMed 17366577
PubMed: No PubMed ID
PubMed 18042262
PubMed 16474404
PubMed 16474404
PubMed 16474404
PubMed 17704260
PubMed 17551924
PubMed 19206169
PubMed 16804887
PubMed 17551924
PubMed 24451042
PubMed 17366577
PubMed 16474404
PubMed 18042262
PubMed 16439621
PubMed 16439621
PubMed 19206169
PubMed 18413255
PubMed 20735442
PubMed 19206169
PubMed 24451042
PubMed 22495831
PubMed 16804887
PubMed 19206169
PubMed 19206169
www.ngpd.it
Elenco mutazioni NGPD
CBL
CM105118
GAT‐TAT
Asp390Tyr
1168G>T
D390Y
Noonan‐like syndrome
Martinelli (2010) Am J Hum Genet 87:250
PubMed 20619386
CBL
CM142934
GAT‐GTT
Asp390Val
1169A>T
D390V
Noonan‐like syndrome
Becker (2014) Blood 123:1883
PubMed 24493670
CBL
CM105119
CGA‐CAA
Arg420Gln
1259G>A
R420Q
Noonan‐like syndrome
Martinelli (2010) Am J Hum Genet 87:250
PubMed 20619386
CBL
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CC2D2A
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CEP290
CM140995
CM110641
CM096675
CM085305
CM085309
CM120106
CM085306
CM100397
CM085307
CM122721
CM120108
CM120107
CM120109
CM120105
CM129223
CM085310
CM085308
CM096676
CM129224
CM061686
CM110627
CM131894
CM110626
CM074724
CM074725
CM128935
CM061685
CM061681
CM110628
CM110629
CM061683
CM131893
CM061682
CM061684
GTG‐ATG
CTG‐CCG
CCG‐TCG
CGA‐TGA
CGA‐TGA
GTG‐GCG
CAG‐CAC
ACG‐ATG
CCT‐TCT
GAA‐AAA
GTG‐GCG
CGT‐TGT
CGT‐CAT
GTG‐GCG
AAT‐AGT
CGT‐TGT
CTA‐CCA
GAC‐GTC
TAT‐CAT
TGG‐TGT
GAA‐TAA
GAA‐TAA
GGT‐AGT
CGA‐TGA
CGA‐TGA
GAA‐TAA
GAG‐TAG
CAG‐TAG
GAA‐TAA
GAG‐TAG
GGA‐TGA
AAA‐TAA
CAG‐TAG
CAG‐TAG
Val784Met
Leu559Pro
Pro721Ser
Arg950Term
Arg1019Term
Val1045Ala
Gln1096His
Thr1116Met
Pro1122Ser
Glu1126Lys
Val1151Ala
Arg1284Cys
Arg1284His
Val1430Ala
Asn1520Ser
Arg1528Cys
Leu1551Pro
Asp1556Val
Tyr1568His
Trp7Cys
Glu46Term
Glu72Term
Gly397Ser
Arg549Term
Arg751Term
Glu1572Term
Glu1578Term
Gln1591Term
Glu1728Term
Glu1771Term
Gly1890Term
Lys1930Term
Gln1942Term
Gln2111Term
2350G>A
1676T>C
2161C>T
2848C>T
3055C>T
3134T>C
3288G>C
3347C>T
3364C>T
3376G>A
3452T>C
3850C>T
3851G>A
4289T>C
4559A>G
4582C>T
4652T>C
4667A>T
4702T>C
21G>T
136G>T
214G>T
1189G>A
1645C>T
2251C>T
4714G>T
4732G>T
4771C>T
5182G>T
5311G>T
5668G>T
5788A>T
5824C>T
6331C>T
V784M
L559P
P721S
R950*
R1019*
V1045A
Q1096H
T1116M
P1122S
E1126K
V1151A
R1284C
R1284H
V1430A
N1520S
R1528C
L1551P
D1556V
Y1568H
W7C
E46*
E72*
G397S
R549*
R751*
E1572*
E1578*
Q1591*
E1728*
E1771*
G1890*
K1930*
Q1942*
Q2111*
Lepri (2014) BMC Med Genet 15:
Otto (2011) J Med Genet 48:105
Mougou‐Zerelli (2009) Hum Mutat 30:1574
Gorden (2008) Am J Hum Genet 83:559
Gorden (2008) Am J Hum Genet 83:559
Bachmann‐Gagescu (2012) J Med Genet 49:126
Gorden (2008) Am J Hum Genet 83:559
Doherty (2010) J Med Genet 47:8
Gorden (2008) Am J Hum Genet 83:559
Srour (2012) Am J Hum Genet 90:693
Bachmann‐Gagescu (2012) J Med Genet 49:126
Bachmann‐Gagescu (2012) J Med Genet 49:126
Bachmann‐Gagescu (2012) J Med Genet 49:126
Bachmann‐Gagescu (2012) J Med Genet 49:126
Srour (2012) J Med Genet 49:636
Gorden (2008) Am J Hum Genet 83:559
Gorden (2008) Am J Hum Genet 83:559
Mougou‐Zerelli (2009) Hum Mutat 30:1574
Srour (2012) J Med Genet 49:636
Valente (2006) Nat Genet 38:623
Otto (2011) J Med Genet 48:105
Tsurusaki (2013) J Hum Genet 58:113
Otto (2011) J Med Genet 48:105
Tory (2007) J Am Soc Nephrol 18:1566
Tory (2007) J Am Soc Nephrol 18:1566
Alazami (2012) Hum Mutat 33:1423
Valente (2006) Nat Genet 38:623
Sayer (2006) Nat Genet 38:674
Otto (2011) J Med Genet 48:105
Otto (2011) J Med Genet 48:105
Sayer (2006) Nat Genet 38:674
Tsurusaki (2013) J Hum Genet 58:113
Valente (2006) Nat Genet 38:623
Sayer (2006) Nat Genet 38:674
PubMed 24451042
PubMed 21068128
PubMed 19777577
PubMed 18950740
PubMed 18950740
PubMed 22241855
PubMed 18950740
PubMed 19574260
PubMed 18950740
PubMed 22425360
PubMed 22241855
PubMed 22241855
PubMed 22241855
PubMed 22241855
PubMed 23012439
PubMed 18950740
PubMed 18950740
PubMed 19777577
PubMed 23012439
PubMed 16682970
PubMed 21068128
PubMed 23034536
PubMed 21068128
PubMed 17409309
PubMed 17409309
PubMed 22693042
PubMed 16682970
PubMed 16682973
PubMed 21068128
PubMed 21068128
PubMed 16682973
PubMed 23034536
PubMed 16682970
PubMed 16682973
CEP290
CM074090
ATG‐GTG
Met1Val
1A>G
M1V
Helou (2007) J Med Genet 44:657
PubMed 17617513
CEP290
CM072938
CAG‐CTG
Gln662Leu
1985A>T
Q662L
Brancati (2007) Am J Hum Genet 81:104
PubMed 17564967
CEP290
CM072936
CGA‐TGA
Arg1271Term
3811C>T
R1271*
Brancati (2007) Am J Hum Genet 81:104
PubMed 17564967
CEP290
CM072945
CGA‐TGA
Arg1465Term
4393C>T
R1465*
Brancati (2007) Am J Hum Genet 81:104
PubMed 17564967
CEP290
CM072937
GAA‐TAA
Glu1908Term
5722G>T
E1908*
Brancati (2007) Am J Hum Genet 81:104
PubMed 17564967
CEP290
CM074089
CGA‐TGA
Arg1978Term
5932C>T
R1978*
Helou (2007) J Med Genet 44:657
PubMed 17617513
CEP290
CM072943
GAG‐TAG
Glu1981Term
5941G>T
E1981*
Noonan‐like syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome, Senior‐Loken type
Joubert syndrome, Senior‐Loken type
Joubert syndrome, Senior‐Loken type
Joubert syndrome, Senior‐Loken type
Joubert syndrome, Senior‐Loken type
Joubert syndrome, Senior‐Loken type
Joubert syndrome, Senior‐Loken type
Brancati (2007) Am J Hum Genet 81:104
PubMed 17564967
www.ngpd.it
Elenco mutazioni NGPD
CEP290
CM072946
CGA‐TGA
Arg2011Term
6031C>T
R2011*
CEP290
CFTR
CFTR
CFTR
CFTR
CM072944
CM024685
CM024689
CM003258
CM034795
TAC‐TAA
GGC‐GTC
AGC‐AGG
GAG‐GGG
CCC‐ACC
Tyr2024Term
Gly723Val
Ser902Arg
Glu1228Gly
Pro1372Thr
6072C>A
2168G>T
2706C>G
3683A>G
4114C>A
Y2024*
G723V
S902R
E1228G
P1372T
CFTR
CM970260
GAA‐AAA
Glu56Lys
166G>A
E56K
CFTR
CM970261
GAT‐AAT
Asp58Asn
172G>A
D58N
CFTR
CM980331
CGA‐CAA
Arg75Gln
224G>A
R75Q
CFTR
CM091992
TTT‐ATT
Phe87Ile
259T>A
F87I
CFTR
CM015351
CAG‐CCG
Gln98Pro
293A>C
Q98P
CFTR
CM034779
TTA‐TCA
Leu101Ser
302T>C
L101S
CFTR
CM970263
CCG‐CTG
Pro111Leu
332C>T
P111L
CFTR
CM074727
AAC‐ATC
Asn113Ile
338A>T
N113I
CFTR
CM005456
CGC‐GGC
Arg117Gly
349C>G
R117G
CFTR
CM147305
TCT‐CCT
Ser118Pro
352T>C
S118P
CFTR
CM065998
TAT‐CAT
Tyr122His
364T>C
Y122H
CFTR
CM147304
GGC‐TGC
Gly126Cys
376G>T
G126C
CFTR
CM091993
GGC‐AGC
Gly126Ser
376G>A
G126S
CFTR
CM962455
CAT‐CGT
His146Arg
437A>G
H146R
CFTR
CM043460
CAG‐AAG
Gln151Lys
451C>A
Q151K
CFTR
CM091994
TTT‐TGT
Phe157Cys
470T>G
F157C
CFTR
CM994783
AGT‐CGT
Ser158Arg
472A>C
S158R
CFTR
CM015353
CGT‐CAT
Arg170His
509G>A
R170H
CFTR
CM024664
TTC‐ATC
Phe200Ile
598T>A
F200I
CFTR
CM043462
ATC‐ATG
Ile203Met
609C>G
I203M
CFTR
CM067761
GCT‐GTT
Ala238Val
713C>T
A238V
CFTR
CM970267
ATG‐AAG
Met244Lys
731T>A
M244K
CFTR
CM972940
AGA‐ACA
Arg248Thr
743G>C
R248T
CFTR
CM970269
ATG‐AGG
Met265Arg
794T>G
M265R
CFTR
CM147306
ATG‐AGG
Met281Arg
842T>G
M281R
CFTR
CM058372
AAC‐AAG
Asn287Lys
861C>G
N287K
Joubert syndrome, Senior‐Loken type
Joubert syndrome, Senior‐Loken type
Bronchiectasis
Bronchiectasis
Bronchiectasis
Bronchiectasis
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Brancati (2007) Am J Hum Genet 81:104
PubMed 17564967
Brancati (2007) Am J Hum Genet 81:104
Ferec (2002) CFTR LSDB entry Pers comm:
Claustres (2002) CFTR LSDB entry Pers comm:
Ninis (2003) J Med Genet 40:530
Girodon (2003) CFTR LSDB entry Pers comm:
PubMed 17564967
Source: LSDB
Source: LSDB
PubMed 12843327
Source: LSDB
Doerk (1997) Hum Genet 100:365
PubMed 9272157
Doerk (1997) Hum Genet 100:365
PubMed 9272157
Jarvi (1998) Fertil Steril 70:724
PubMed 9797105
Sharma (2009) Hum Reprod 24:1229
PubMed 19181743
Schrijver (2005) J Mol Diagn 7:375
PubMed 16049310
Girodon (2003) CFTR LSDB entry Pers comm:
Source: LSDB
de Meeus (1997) Hum Mutat 11:480
PubMed 10200050
Omar (2007) CFTR LSDB entry Unpublished:.
Source: LSDB
Daudin (2000) Fertil Steril 74:1164
PubMed 11119745
Sharma (2014) Mol Hum Reprod epub:epub
PubMed 24958810
Radpour (2006) Mol Hum Reprod 12:717
PubMed 16973827
Sharma (2014) Mol Hum Reprod epub:epub
PubMed 24958810
Sharma (2009) Hum Reprod 24:1229
PubMed 19181743
Bienvenu (1996) CFTR LSDB entry Newsletter:#68
Source: LSDB
Girodon (2004) CFTR LSDB entry Pers comm:
Source: LSDB
Sharma (2009) Hum Reprod 24:1229
PubMed 19181743
Girodon (1999) CFTR LSDB entry Pers comm:
Source: LSDB
Brownsell (2001) CFTR LSDB entry Pers comm:
Source: LSDB
Claustres (2002) CFTR LSDB entry Pers comm:
Source: LSDB
Claustres (2004) CFTR LSDB entry Pers comm:
Source: LSDB
Picci (2006) CFTR LSDB entry Unpublished:.
Source: LSDB
de Meeus (1997) Hum Mutat 11:480
PubMed 10200050
Scheffer (1997) CFTR LSDB entry Newsletter:#70
Source: LSDB
Doerk (1997) Hum Genet 100:365
PubMed 9272157
Sharma (2014) Mol Hum Reprod epub:epub
PubMed 24958810
Wu (2005) Hum Reprod 20:2470
PubMed 15905293
www.ngpd.it
Elenco mutazioni NGPD
CFTR
CM970271
CGG‐TGG
Arg297Trp
889C>T
R297W
CFTR
CM962461
TTA‐GTA
Leu320Val
958T>G
L320V
CFTR
CM970273
CGG‐CTG
Arg334Leu
1001G>T
R334L
CFTR
CM065996
ACC‐GCC
Thr338Ala
1012A>G
T338A
CFTR
CM123027
GCT‐ACT
Ala357Thr
1069G>A
A357T
CFTR
CM024673
GAA‐AAA
Glu379Lys
1135G>A
E379K
CFTR
CM962463
GTA‐GCA
Val392Ala
1175T>C
V392A
CFTR
CM024674
GCC‐GAC
Ala399Asp
1196C>A
A399D
CFTR
CM123029
AGA‐ATA
Arg419Ile
1256G>T
R419I
CFTR
CM970275
GAT‐TAT
Asp443Tyr
1327G>T
D443Y
CFTR
CM952049
TCA‐TTA
Ser466Leu
1397C>T
S466L
CFTR
CM056306
ATG‐ATT
Met469Ile
1407G>T
M469I
CFTR
CM034785
ATG‐GTG
Met469Val
1405A>G
M469V
CFTR
CM972946
CAC‐TAC
His484Tyr
1450C>T
H484Y
CFTR
CM123030
TGT‐TTT
Cys491Phe
1472G>T
C491F
CFTR
CM129626
TGT‐TCT
Cys491Ser
1472G>C
C491S
CFTR
CM980335
CCT‐GCT
Pro499Ala
1495C>G
P499A
CFTR
CM147278
ACC‐AAC
Thr501Asn
1502C>A
T501N
CFTR
CM147279
ATC‐AAC
Ile507Asn
1520T>A
I507N
CFTR
CM068683
ATC‐GTC
Ile507Val
1519A>G
I507V
CFTR
CM980336
GAT‐GGT
Asp513Gly
1538A>G
D513G
CFTR
CM137997
GAA‐AAA
Glu527Lys
1579G>A
E527K
CFTR
CM065997
AAA‐TAA
Lys536Term
1606A>T
K536*
CFTR
CM995324
CTT‐CCT
Leu541Pro
1622T>C
L541P
CFTR
CM091995
GAA‐GCA
Glu543Ala
1628A>C
E543A
CFTR
CM970277
GGT‐GTT
Gly544Val
1631G>T
G544V
CFTR
CM980337
GGT‐GCT
Gly551Ala
1652G>C
G551A
CFTR
CM983666
GAT‐GGT
Asp565Gly
1694A>G
D565G
CFTR
CM970281
TTG‐TTT
Leu568Phe
1704G>T
L568F
CFTR
CM067770
CCT‐TCT
Pro574Ser
1720C>T
P574S
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Congenital absence of vas deferens
Doerk (1997) Hum Genet 100:365
PubMed 9272157
Schrijver (2005) J Mol Diagn 7:289
PubMed 15858154
Doerk (1997) Hum Genet 100:365
PubMed 9272157
Radpour (2006) Mol Hum Reprod 12:717
PubMed 16973827
Li (2012) J Cyst Fibros epub:epub
PubMed 22483971
Claustres (2002) CFTR LSDB entry Pers comm:
Source: LSDB
Bienvenu (1996) CFTR LSDB entry Newsletter:#68
Source: LSDB
Bernardino (2003) Genet Mol Biol 26:1
PubMed: No PubMed ID
Li (2012) J Cyst Fibros epub:epub
PubMed 22483971
de Meeus (1997) Hum Mutat 11:480
PubMed 10200050
Costes (1995) CFTR LSDB entry Newsletter:#66
Source: LSDB
Wu (2005) Hum Reprod 20:2470
PubMed 15905293
Lu (2013) Urology 82:824
PubMed 23953609
Casals (2000) Hum Reprod 15:1476
PubMed 10875853
Li (2012) J Cyst Fibros 11:316
PubMed 22483971
Poulou (2012) J Cyst Fibros 11:344
PubMed 22326559
Arduino (1998) Clin Genet 53:202
PubMed 9630075
Lu (2014) Fertil Steril 101:1255
PubMed 24559724
Lu (2014) Fertil Steril 101:1255
PubMed 24559724
Radpour (2006) Mol Hum Reprod 12:469
PubMed 16714368
Bienvenu (1998) Hum Mutat 12:213
PubMed 10651488
Lu (2013) Urology epub:epub
PubMed 23953609
Radpour (2006) Mol Hum Reprod 12:717
PubMed 16973827
Lissens (1999) Mol Hum Reprod 5:10
PubMed 10050655
Sharma (2009) Hum Reprod 24:1229
PubMed 19181743
de Meeus (1997) Hum Mutat 11:480
PubMed 10200050
Jarvi (1998) Fertil Steril 70:724
PubMed 9797105
Kanavakis (1998) Mol Hum Reprod 4:333
PubMed 9620832
Doerk (1997) Hum Genet 100:365
PubMed 9272157
Fresquet (2011) J Mol Diagn 13:520
PubMed 21708286
www.ngpd.it
Elenco mutazioni NGPD
CFTR
CM920164
GGA‐GCA
Gly576Ala
1727G>C
G576A
CFTR
CM024680
ACA‐TCA
Thr582Ser
1744A>T
T582S
CFTR
CM043467
TTT‐ATT
Phe587Ile
1759T>A
F587I
CFTR
CM123026
TGT‐TTT
Cys592Phe
1775G>T
C592F
CFTR
CM994786
ACT‐ATT
Thr604Ile
1811C>T
T604I
CFTR
CM077237
AGC‐AGG
Ser753Arg
2259C>G
S753R
CFTR
CM980348
AGG‐ATG
Arg766Met
2297G>T
R766M
CFTR
CM980347
CGA‐GGA
Arg792Gly
2374C>G
R792G
CFTR
CM004239
GAA‐GTA
Glu804Val
2411A>T
E804V
CFTR
CM980349
ATA‐ATG
Ile807Met
2421A>G
I807M
CFTR
CM015358
AGA‐GGA
Arg810Gly
2428A>G
R810G
CFTR
CM129625
GGC‐GTC
Gly817Val
2450G>T
G817V
CFTR
CM004892
CCA‐CGA
Pro841Arg
2522C>G
P841R
CFTR
CM091996
TAT‐TTT
Tyr852Phe
2555A>T
Y852F
CFTR
CM044595
ATT‐TTT
Ile853Phe
2557A>T
I853F
CFTR
CM043469
GTG‐TTG
Val920Leu
2758G>T
V920L
CFTR
CM034788
AGA‐GGA
Arg933Gly
2797A>G
R933G
CFTR
CM970289
AGA‐AGT
Arg933Ser
2799A>T
R933S
CFTR
CM147307
AGA‐ACA
Arg933Thr
2798G>C
R933T
CFTR
CM970290
GTG‐GGG
Val938Gly
2813T>G
V938G
CFTR
CM034789
GCA‐GTA
Ala959Val
2876C>T
A959V
CFTR
CM970291
GAT‐GCT
Asp979Ala
2936A>C
D979A
CFTR
CM920171
TTG‐TTC
Leu997Phe
2991G>C
L997F
CFTR
CM972957
CCA‐TCA
Pro1021Ser
3061C>T
P1021S
CFTR
CM970293
TAT‐TGT
Tyr1032Cys
3095A>G
Y1032C
CFTR
CM003805
CTT‐ATT
Leu1055Ile
3163C>A
L1055I
CFTR
CM074736
GCC‐CCC
Ala1067Pro
3199G>C
A1067P
CFTR
CM034791
CAG‐TAG
Gln1071Term
3211C>T
Q1071*
CFTR
CM015359
GCT‐CCT
Ala1081Pro
3241G>C
A1081P
CFTR
BM1272737
CAA‐AAA
Gln1100Lys
3298C>A
Q1100K
Congenital absence of vas deferens
Anguiano (1992) JAMA 267:1794
Congenital absence of vas deferens
Seia (2002) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Polizzi (2004) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Li (2012) J Cyst Fibros epub:epub
Congenital absence of vas deferens
Girodon (1999) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Pieri (2007) Clinics (Sao Paulo) 62:385
Congenital absence of vas deferens
Vankeerberghen (1998) Hum Mol Genet 7:1761
Congenital absence of vas deferens
Vankeerberghen (1998) Hum Mol Genet 7:1761
Congenital absence of vas deferens
Ravnik‐Glavac (2000) Pflugers Arch 439:R53
Congenital absence of vas deferens
Vankeerberghen (1998) Hum Mol Genet 7:1761
Congenital absence of Sobczynska‐Tomaczewsk (2001) CFTR LSDB entry Pers vas deferens
comm:
Congenital absence of vas deferens
Poulou (2012) J Cyst Fibros 11:344
Congenital absence of vas deferens
Fresquet (2011) J Mol Diagn 13:520
Congenital absence of vas deferens
Sharma (2009) Hum Reprod 24:1229
Congenital absence of vas deferens
Dayangac (2004) Hum Reprod 19:1094
Congenital absence of vas deferens
Girodon (2004) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Girodon (2003) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Doerk (1997) Hum Genet 100:365
Congenital absence of vas deferens
Sharma (2014) Mol Hum Reprod epub:epub
Congenital absence of vas deferens
Doerk (1997) Hum Genet 100:365
Congenital absence of vas deferens
Girodon (2003) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Doerk (1997) Hum Genet 100:365
Congenital absence of vas deferens
Fanen (1992) Genomics 13:770
Congenital absence of vas deferens
Casals (2000) Hum Reprod 15:1476
Congenital absence of vas deferens
Doerk (1997) Hum Genet 100:365
Congenital absence of Zeng (2000) Zhonghua Yi Xue Yi Chuan Xue Za Zhi vas deferens
17:241
Congenital absence of vas deferens
Omar (2007) CFTR LSDB entry Unpublished:.
Congenital absence of vas deferens
Girodon (2003) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Ngukam (2004) J Trop Pediatr 50:239
Congenital absence of vas deferens
Akin (2012) Andrologia epub:epub
PubMed 1545465
Source: LSDB
Source: LSDB
PubMed 22483971
Source: LSDB
PubMed 17823699
PubMed 9736778
PubMed 9736778
PubMed 10653141
PubMed 9736778
Source: LSDB
PubMed 22326559
PubMed 21708286
PubMed 19181743
PubMed 15070876
Source: LSDB
Source: LSDB
PubMed 9272157
PubMed 24958810
PubMed 9272157
Source: LSDB
PubMed 9272157
PubMed 1379210
PubMed 10875853
PubMed 9272157
PubMed 10932005
Source: LSDB
Source: LSDB
PubMed 15357566
PubMed 23240968
www.ngpd.it
Elenco mutazioni NGPD
CFTR
CM071597
GTC‐CTC
Val1108Leu
3322G>C
V1108L
CFTR
CM015360
GGT‐GCT
Gly1130Ala
3389G>C
G1130A
CFTR
CM086582
TGG‐CGG
Trp1145Arg
3433T>C
W1145R
CFTR
CM970296
GTG‐GAG
Val1153Glu
3458T>A
V1153E
CFTR
CM941983
GAT‐GGT
Asp1154Gly
3461A>G
D1154G
CFTR
CM091997
GAT‐GAA
Asp1270Glu
3810T>A
D1270E
CFTR
CM113212
GCC‐GTC
Ala1285Val
3854C>T
A1285V
CFTR
CM055122
CCA‐TCA
Pro1290Ser
3868C>T
P1290S
CFTR
CM034794
TAT‐TGT
Tyr1307Cys
3920A>G
Y1307C
CFTR
CM067747
CAG‐CAT
Gln1309His
3927G>T
Q1309H
CFTR
CM973398
TTT‐GTT
Phe1337Val
4009T>G
F1337V
CFTR
CM994789
CTT‐TTT
Leu1339Phe
4015C>T
L1339F
CFTR
CM970298
AAG‐GAG
Lys1351Glu
4051A>G
K1351E
CFTR
CM970299
GCG‐GTG
Ala1364Val
4091C>T
A1364V
CFTR
CM950257
GAT‐CAT
Asp1377His
4129G>C
D1377H
CFTR
CM970300
CTA‐CAA
Leu1388Gln
4163T>A
L1388Q
CFTR
CM067755
GAA‐GGA
Glu1401Gly
4202A>G
E1401G
CFTR
CM071596
GAA‐AAA
Glu1401Lys
4201G>A
E1401K
CFTR
CM034796
GAA‐AAA
Glu1409Lys
4225G>A
E1409K
CFTR
CM931253
CAA‐TAA
Gln1411Term
4231C>T
Q1411*
CFTR
CM067773
TTG‐TCG
Leu1414Ser
4241T>C
L1414S
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CM034797
CM941965
CM960274
CM930093
CM994781
CM930094
CM940232
CM940233
CM930095
CM970256
CM021068
CM031655
CM952250
CM962449
CM931138
GAA‐TAA
ATG‐ATA
ATG‐ATT
ATG‐AAG
ATG‐ACG
ATG‐GTG
CAG‐TAG
AGG‐TGG
TCG‐TAG
CCT‐CTT
CTG‐GTG
GAA‐TAA
AGC‐CGC
TCC‐TTC
AAA‐TAA
Glu1473Term
Met1Ile
Met1Ile
Met1Lys
Met1Thr
Met1Val
Gln2Term
Arg3Trp
Ser4Term
Pro5Leu
Leu6Val
Glu7Term
Ser10Arg
Ser13Phe
Lys14Term
4417G>T
3G>A
3G>T
2T>A
2T>C
1A>G
4C>T
7A>T
11C>A
14C>T
16C>G
19G>T
28A>C
38C>T
40A>T
E1473*
M1I
M1I
M1K
M1T
M1V
Q2*
R3W
S4*
P5L
L6V
E7*
S10R
S13F
K14*
Congenital absence of vas deferens
Grangeia (2007) Genet Med 9:163
Congenital absence of vas deferens
Dayangac (2004) Hum Reprod 19:1094
Congenital absence of vas deferens
Alibakhshi (2008) J Cyst Fibros 7:102
Congenital absence of vas deferens
Doerk (1997) Hum Genet 100:365
Congenital absence of vas deferens
Costes (1994) CFTR LSDB entry Newsletter:#64
Congenital absence of vas deferens
Sharma (2009) Hum Reprod 24:1229
Congenital absence of vas deferens
Sachdeva (2011) Genet Test Mol Biomarkers 15:307
Congenital absence of vas deferens
Grangeia (2005) Fertil Steril 83:448
Congenital absence of vas deferens
Casals (2003) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Girodon (2006) CFTR LSDB entry Unpublished:.
Congenital absence of vas deferens
Scheffer (1997) CFTR LSDB entry Newsletter:#70
Congenital absence of vas deferens
Girodon (1999) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Doerk (1997) Hum Genet 100:365
Congenital absence of vas deferens
de Meeus (1997) Hum Mutat 11:480
Congenital absence of vas deferens
Costes (1995) Eur J Hum Genet 3:285
Congenital absence of vas deferens
Doerk (1997) Hum Genet 100:365
Congenital absence of vas deferens
Girodon (2006) CFTR LSDB entry Unpublished:.
Congenital absence of vas deferens
Grangeia (2007) Genet Med 9:163
Congenital absence of vas deferens
Alonso (2003) CFTR LSDB entry Pers comm:
Congenital absence of vas deferens
Costes (1993) CFTR LSDB entry Newsletter:#58
Congenital absence of vas deferens
Picci (2006) CFTR LSDB entry Unpublished:.
Congenital absence of vas deferens
Girodon (2003) CFTR LSDB entry Pers comm:
Cystic fibrosis
Axton (1994) CFTR LSDB entry Newsletter:#61
Cystic fibrosis
Hughes (1996) Hum Mutat 8:340
Cystic fibrosis
Claustres (1993) Hum Mol Genet 2:1209
Cystic fibrosis
Bienvenu (2005) Hum Biol 77:705
Cystic fibrosis
Cheadle (1993) Hum Mol Genet 2:1551
Cystic fibrosis
Savov (1994) Hum Mol Genet 3:57
Cystic fibrosis
Savov (1994) Hum Mol Genet 3:57
Cystic fibrosis
Glavac (1993) Hum Mol Genet 2:315
Cystic fibrosis
Casals (1997) Hum Genet 101:365
Cystic fibrosis
Visich (2002) Clin Genet 61:207
Cystic fibrosis
Wong (2003) Am J Med Genet 120A:296
Cystic fibrosis
Hughes (1995) CFTR LSDB entry Newsletter:#65
Cystic fibrosis
Cao (1996) CFTR LSDB entry Newsletter:#69
Cystic fibrosis
Ferec (1993) CFTR LSDB entry Newsletter:#56
PubMed 17413420
PubMed 15070876
PubMed 17662673
PubMed 9272157
Source: LSDB
PubMed 19181743
PubMed 21254931
PubMed 15705389
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 9272157
PubMed 10200050
PubMed 8556303
PubMed 9272157
Source: LSDB
PubMed 17413420
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 8956039
PubMed 7691344
PubMed 16596947
PubMed 7505689
PubMed 7512860
PubMed 7512860
PubMed 7684643
PubMed 9439669
PubMed 12000363
PubMed 12833420
Source: LSDB
Source: LSDB
Source: LSDB
www.ngpd.it
Elenco mutazioni NGPD
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CM067745
CM970257
CM983534
CM043456
CM043457
CM057570
CM940234
CM920138
CM141622
CM940235
CM950231
CM136671
AGC‐GGC
TGG‐TGT
TGG‐TGA
TTG‐TTC
GGA‐AGA
GGA‐CGA
GGA‐GAA
GGA‐TGA
GGA‐GTA
CAG‐TAG
CGC‐CTC
CTG‐ATG
Ser18Gly
Trp19Cys
Trp19Term
Leu24Phe
Gly27Arg
Gly27Arg
Gly27Glu
Gly27Term
Gly27Val
Gln30Term
Arg31Leu
Leu32Met
52A>G
57G>T
57G>A
72G>C
79G>A
79G>C
80G>A
79G>T
80G>T
88C>T
92G>T
94C>A
S18G
W19C
W19*
L24F
G27R
G27R
G27E
G27*
G27V
Q30*
R31L
L32M
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CM132377
CM034776
CM920139
CM950232
CM920140
CM970258
CM952045
CM970259
CM067734
CM972934
CM950233
CM930096
CM994782
CM003234
CM1213091
CM003235
CM920141
CM057577
CM034777
CM034778
CM930097
CM076095
CM920979
CM972935
CM090068
CM962450
CM993844
CM003236
CM930098
CM126469
CM950234
CM940236
CM931140
CM931141
CM067768
CM067752
CM910068
CM970262
CM940237
CM960275
GAA‐TAA
GAC‐AAC
CAA‐TAA
TCT‐TTT
GAT‐GGT
GCT‐GAT
TCT‐CCT
TCT‐TAT
AGA‐AAA
TGG‐CGG
TGG‐GGG
TGG‐TAG
TGG‐TGA
GAT‐GGT
AGA‐TGA
GAG‐AAG
GAG‐TAG
CTG‐CCG
AAG‐GAG
AAT‐AGT
CCT‐CTT
CCT‐TCT
AAA‐AAT
AAA‐GAA
CTC‐CAC
GCC‐GAC
GCC‐ACC
CGG‐CAG
CGG‐TGG
CGA‐GGA
CGA‐CTA
CGA‐TGA
TGG‐CGG
TGG‐TAG
ATG‐GTG
TAT‐CAT
GGA‐GAA
GGA‐GTA
TTT‐CTT
TTA‐TCA
Glu33Term
Asp36Asn
Gln39Term
Ser42Phe
Asp44Gly
Ala46Asp
Ser50Pro
Ser50Tyr
Arg55Lys
Trp57Arg
Trp57Gly
Trp57Term
Trp57Term
Asp58Gly
Arg59Term
Glu60Lys
Glu60Term
Leu61Pro
Lys64Glu
Asn66Ser
Pro67Leu
Pro67Ser
Lys68Asn
Lys68Glu
Leu69His
Ala72Asp
Ala72Thr
Arg74Gln
Arg74Trp
Arg75Gly
Arg75Leu
Arg75Term
Trp79Arg
Trp79Term
Met82Val
Tyr84His
Gly85Glu
Gly85Val
Phe87Leu
Leu88Ser
97G>T
106G>A
115C>T
125C>T
131A>G
137C>A
148T>C
149C>A
164G>A
169T>C
169T>G
170G>A
171G>A
173A>G
175A>T
178G>A
178G>T
182T>C
190A>G
197A>G
200C>T
199C>T
204A>T
202A>G
206T>A
215C>A
214G>A
221G>A
220C>T
223C>G
224G>T
223C>T
235T>C
236G>A
244A>G
250T>C
254G>A
254G>T
259T>C
263T>C
E33*
D36N
Q39*
S42F
D44G
A46D
S50P
S50Y
R55K
W57R
W57G
W57*
W57*
D58G
R59*
E60K
E60*
L61P
K64E
N66S
P67L
P67S
K68N
K68E
L69H
A72D
A72T
R74Q
R74W
R75G
R75L
R75*
W79R
W79*
M82V
Y84H
G85E
G85V
F87L
L88S
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Picci (2006) CFTR LSDB entry Unpublished:.
Macek (1997) Am J Hum Genet 60:1122
Newsletter:#70
Seia (2004) CFTR LSDB entry Pers comm:
Oller Ramirez (2006) Mol Genet Metab 87:370
Herova (2005) CFTR LSDB entry Unpublished:.
Bienvenu (1994) Hum Mol Genet 3:365
Shackleton (1992) Hum Mol Genet 1:445
Ziętkiewicz (2014) PLoS One 9:e89094
Chillon (1994) Hum Genet 93:447
Zielenski (1995) Hum Mutat 5:43
Prach (2013) J Mol Diagn epub:epub
Sobczynska‐Tomaszewska (2013) Eur J Hum Genet 21:391
Girodon (2003) CFTR LSDB entry Pers comm:
Cutting (1992) Am J Hum Genet 50:1185
Ferec (1995) Mol Cell Probes 9:135
Fanen (1992) Genomics 13:770
Tzetis (1997) Hum Genet 99:121
Casals (2000) Hum Reprod 15:1476
Zielenski (1997) Hum Mutat 9:183
Pasquet (2006) CFTR LSDB entry Unpublished:.
Malone (1997) CFTR LSDB entry Newsletter:#69
Brancolini (1995) Hum Genet 96:312
Audrezet (1993) Hum Mol Genet 2:51
Le Maréchal (2001) Hum Genet 108:290
Claustres (2000) CFTR LSDB entry Pers comm:
Deepak (2012) J Pediatr Genet 1:221
Claustres (2000) CFTR LSDB entry Pers comm:
Tsui (1992) Hum Mutat 1:197
Stark (2005) CFTR LSDB entry Unpublished:.
Girodon (2003) CFTR LSDB entry Pers comm:
Cashman (2003) CFTR LSDB entry Newsletter:#55
Claustres (1993) Hum Mol Genet 2:1209
Kraus (2007) Cell Physiol Biochem 19:239
Doerk (1992) CFTR LSDB entry Newsletter:#48
Kilinc (2002) Am J Med Genet 113:250
Sharma (2009) Ann Hum Genet 73:26
Le Gall (1996) CFTR LSDB entry Newsletter:#68
Pacheco (1999) CFTR LSDB entry Pers comm:
Schrijver (2005) J Mol Diagn 7:375
Claustres (1993) Hum Mol Genet 2:1209
Sachdeva (2012) Genet Test Mol Biomarkers 16:798
Chillon (1995) N Engl J Med 332:1475
Doerk (1994) Hum Genet 94:533
Macek (1993) CFTR LSDB entry Newsletter:#56
Ferec (1993) CFTR LSDB entry Newsletter:#58
Picci (2006) CFTR LSDB entry Unpublished:.
Picci (2006) CFTR LSDB entry Unpublished:.
Zielenski (1991) Genomics 10:229
Casals (1997) Hum Genet 101:365
Bienvenu (1994) Hum Mutat 3:395
Hughes (1996) Hum Mutat 8:340
Source: LSDB
PubMed 9150159
Source: LSDB
Source: LSDB
PubMed 16423550
Source: LSDB
PubMed 7516232
PubMed 1284531
PubMed 24586523
PubMed 7513293
PubMed 7537150
PubMed 23810505
PubMed 22892530
Source: LSDB
PubMed 1376017
PubMed 7541510
PubMed 1379210
PubMed 9003508
PubMed 10875853
PubMed 9067761
Source: LSDB
Source: LSDB
PubMed 7544319
PubMed 7683952
PubMed 11379874
Source: LSDB
PubMed: No PubMed ID
Source: LSDB
PubMed 1284534
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 7691344
PubMed 17495464
Source: LSDB
PubMed 12439892
PubMed 18782298
Source: LSDB
Source: LSDB
PubMed 16049310
PubMed 7691344
PubMed 22299590
PubMed 7739684
PubMed 7525450
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 1710599
PubMed 9439669
PubMed 8081395
PubMed 8956039
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM940238
CM920142
CM993845
CM983535
CM930099
CM043458
CM920143
CM940239
CM983536
CM950235
CM980332
CM920980
CM962451
CM057578
CM015352
CM920981
CM003237
CM087273
CM950236
CM983537
CM940240
CM040400
CM993846
CM900042
CM003238
CM962452
CM043459
CM001648
CM003239
CM941966
CM066753
CM940241
CM900043
CM950237
CM930100
CM024661
CM940242
CM034780
CM067766
CM920144
CM983538
CM940243
CM962453
CM972936
CM962454
CM051410
CM950238
CM001649
CM983539
CM941967
CM970264
CM057579
CM962456
TTA‐TAA
TTA‐TGA
TAT‐TGT
TTA‐TCA
GGG‐AGG
GAA‐GAT
GAA‐AAA
GAA‐TAA
GCA‐GAA
CAG‐CGG
CAG‐TAG
CCT‐CTT
TTA‐TGA
CTG‐CGG
CTG‐CCG
GGA‐TGA
ATC‐AAC
GCT‐GTT
TCC‐TTC
TAT‐AAT
TAT‐TGT
TAT‐TAA
GAC‐GAA
GAC‐CAC
GAC‐TAC
CCG‐GCG
AAG‐TAG
GAG‐TAG
GAA‐CAA
GAA‐AAA
GAA‐TAA
CGC‐TGC
CGC‐CAC
CGC‐CTC
CGC‐CCC
ATC‐GTC
GCG‐ACG
GCG‐GTG
TAT‐TGT
TAT‐TAA
ATA‐ACA
GGC‐GAC
TTA‐TGA
CTC‐CGC
CTC‐CAC
CTC‐CCC
CAC‐CGC
CAC‐CTC
CCA‐CTA
CCA‐TCA
GCC‐GAC
CTT‐CAT
ATT‐AAT
Leu88Term
Leu88Term
Tyr89Cys
Leu90Ser
Gly91Arg
Glu92Asp
Glu92Lys
Glu92Term
Ala96Glu
Gln98Arg
Gln98Term
Pro99Leu
Leu101Term
Leu102Arg
Leu102Pro
Gly103Term
Ile105Asn
Ala107Val
Ser108Phe
Tyr109Asn
Tyr109Cys
Tyr109Term
Asp110Glu
Asp110His
Asp110Tyr
Pro111Ala
Lys114Term
Glu115Term
Glu116Gln
Glu116Lys
Glu116Term
Arg117Cys
Arg117His
Arg117Leu
Arg117Pro
Ile119Val
Ala120Thr
Ala120Val
Tyr122Cys
Tyr122Term
Ile125Thr
Gly126Asp
Leu127Term
Leu137Arg
Leu137His
Leu137Pro
His139Arg
His139Leu
Pro140Leu
Pro140Ser
Ala141Asp
Leu145His
Ile148Asn
263T>A
263T>G
266A>G
269T>C
271G>A
276A>T
274G>A
274G>T
287C>A
293A>G
292C>T
296C>T
302T>G
305T>G
305T>C
307G>T
314T>A
320C>T
323C>T
325T>A
326A>G
327T>A
330C>A
328G>C
328G>T
331C>G
340A>T
343G>T
346G>C
346G>A
346G>T
349C>T
350G>A
350G>T
350G>C
355A>G
358G>A
359C>T
365A>G
366T>A
374T>C
377G>A
380T>G
410T>G
410T>A
410T>C
416A>G
416A>T
419C>T
418C>T
422C>A
434T>A
443T>A
L88*
L88*
Y89C
L90S
G91R
E92D
E92K
E92*
A96E
Q98R
Q98*
P99L
L101*
L102R
L102P
G103*
I105N
A107V
S108F
Y109N
Y109C
Y109*
D110E
D110H
D110Y
P111A
K114*
E115*
E116Q
E116K
E116*
R117C
R117H
R117L
R117P
I119V
A120T
A120V
Y122C
Y122*
I125T
G126D
L127*
L137R
L137H
L137P
H139R
H139L
P140L
P140S
A141D
L145H
I148N
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Savov (1994) Hum Mol Genet 3:57
Macek (1992) Hum Mutat 1:501
Giusti (2007) Pediatrics 119:e460
Ferec (1998) CFTR LSDB entry Pers comm:
Guillermit (1993) Hum Genet 91:233
Girodon (2004) CFTR LSDB entry Pers comm:
Shackleton (1992) Hum Mol Genet 1:439
Will (1994) J Clin Invest 93:1852
Ferec (1998) CFTR LSDB entry Pers comm:
Romey (1995) Hum Mutat 6:190
Malone (1998) Hum Mutat 11:152
Schwartz (1992) CFTR LSDB entry Newsletter:#50
Casals (1996) CFTR LSDB entry Newsletter:#69
Torricelli (2005) CFTR LSDB entry Unpublished:.
Fresquet (2011) J Mol Diagn 13:520
Edkins (1992) CFTR LSDB entry Newsletter:#47
Claustres (2000) CFTR LSDB entry Pers comm:
Rana‐Díez (2008) J Cyst Fibros 7:520
Seydewitz (1995) Hum Mutat 6:278
Schaedel (1998) CFTR LSDB entry Pers comm:
Schaedel (1994) Hum Mol Genet 3:1001
Feuillet‐Fieux (2004) Clin Genet 65:284
Padoan (2002) Acta Paediatr 91:82
Dean (1990) Cell 61:863
Casals (2000) Hum Reprod 15:1476
Ferec (1996) CFTR LSDB entry Newsletter:#69
Bonizzato (2004) CFTR LSDB entry Pers comm:
Banjar (1999) Ann Trop Paediatr 19:69
Walker (2000) CFTR LSDB entry Pers comm:
Schrijver (2005) J Mol Diagn 7:289
Munthe‐Kaas (2006) Respir Med 100:2121
Doerk (1994) Hum Genet 94:533
Dean (1990) Cell 61:863
Ferec (1995) Mol Cell Probes 9:135
Reiss (1993) Hum Mol Genet 2:809
Schwarz (2002) CFTR LSDB entry Pers comm:
Chillon (1994) Hum Genet 93:447
Casals (2003) CFTR LSDB entry Pers comm:
Picci (2006) CFTR LSDB entry Unpublished:.
Chevalier (1992) Hum Mol Genet 1:647
Kilinc (2002) Am J Med Genet 113:250
Wagner (1994) Hum Hered 44:56
Ferec (1996) CFTR LSDB entry Newsletter:#67
Newsletter:#70
Wallace (1996) CFTR LSDB entry Newsletter:#69
Patrinos (2005) CFTR LSDB entry :
Ferec (1995) Mol Cell Probes 9:135
Banjar (1999) Ann Trop Paediatr 19:69
Tzetis (1998) CFTR LSDB entry Newsletter:#70
Ferec (1994) CFTR LSDB entry Newsletter:#61
Gouya (1997) Hum Mutat 10:86
Wang (2005) CFTR LSDB entry Unpublished:.
Hirtz (2004) Gastroenterology 127:1085
PubMed 7512860
PubMed 1284542
PubMed 17272608
Source: LSDB
PubMed 7682984
Source: LSDB
PubMed 1284529
PubMed 7512993
Source: LSDB
PubMed 7581407
PubMed 9482579
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 21708286
Source: LSDB
Source: LSDB
PubMed 18676185
PubMed: No PubMed ID
Source: LSDB
PubMed 7524909
PubMed 15025720
PubMed 11883825
PubMed 2344617
PubMed 10875853
Source: LSDB
Source: LSDB
PubMed 10605524
Source: LSDB
PubMed 15858154
PubMed 16678395
PubMed 7525450
PubMed 2344617
PubMed 7541510
PubMed 7689013
Source: LSDB
PubMed 7513293
Source: LSDB
Source: LSDB
PubMed 1284471
PubMed 12439892
PubMed 8163293
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 7541510
PubMed 10605524
Source: LSDB
Source: LSDB
PubMed 9222768
Source: LSDB
PubMed 15480987
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM950239
CM086804
CM067763
CM063899
CM920146
CM983540
CM931142
CM141625
CM972937
CM034009
CM055123
CM024662
CM003240
CM003241
CM993847
CM044864
CM993848
CM983541
CM920982
CM141626
CM970265
CM116798
CM1213092
CM941968
CM920983
CM940244
CM962457
CM910069
CM043461
CM003242
CM057583
CM983542
CM1213093
CM983543
CM060896
CM021553
CM941969
CM940245
CM950240
CM941970
CM983544
CM993849
CM024663
CM920147
CM940246
CM001961
CM034781
CM087336
CM024665
CM930101
CM972938
CM930102
CM931143
GGA‐AGA
GGA‐TGA
GGA‐GTA
ATG‐AAG
CAG‐TAG
ATG‐AGG
ATG‐GTG
AGA‐ATA
GCT‐CCT
AGT‐AAT
AGT‐ACT
TTG‐TCG
TTG‐TAG
TAT‐AAT
TAT‐GAT
TAT‐TGT
TAT‐TCT
AAG‐GAG
TTA‐TCA
TTA‐TAA
AAG‐GAG
CTG‐CGG
AGC‐GGC
CGT‐TGT
CGT‐GGT
ATA‐GTA
ATT‐ACT
GGA‐AGA
GGA‐GAA
CAA‐AAA
CTC‐ATC
AAC‐AAA
AAC‐GAC
AAC‐AAA
AAC‐AAA
TTT‐GTT
GAT‐AAT
GAT‐GGT
GAA‐AAA
GAA‐TAA
GGA‐GTA
GCA‐CCA
CAT‐CGT
CAT‐CAG
CAT‐TAT
GTG‐ATG
TGG‐TGA
GCT‐ACT
CCT‐CGT
CCT‐TCT
TTG‐TTT
TTG‐TGG
CAA‐TAA
Gly149Arg
Gly149Term
Gly149Val
Met150Lys
Gln151Term
Met152Arg
Met152Val
Arg153Ile
Ala155Pro
Ser158Asn
Ser158Thr
Leu159Ser
Leu159Term
Tyr161Asn
Tyr161Asp
Tyr161Cys
Tyr161Ser
Lys162Glu
Leu165Ser
Leu165Term
Lys166Glu
Leu167Arg
Ser169Gly
Arg170Cys
Arg170Gly
Ile175Val
Ile177Thr
Gly178Arg
Gly178Glu
Gln179Lys
Leu183Ile
Asn186Lys
Asn187Asp
Asn187Lys
Asn189Lys
Phe191Val
Asp192Asn
Asp192Gly
Glu193Lys
Glu193Term
Gly194Val
Ala198Pro
His199Arg
His199Gln
His199Tyr
Val201Met
Trp202Term
Ala204Thr
Pro205Arg
Pro205Ser
Leu206Phe
Leu206Trp
Gln207Term
445G>A
445G>T
446G>T
449T>A
451C>T
455T>G
454A>G
458G>T
463G>C
473G>A
473G>C
476T>C
476T>A
481T>A
481T>G
482A>G
482A>C
484A>G
494T>C
494T>A
496A>G
500T>G
505A>G
508C>T
508C>G
523A>G
530T>C
532G>A
533G>A
535C>A
547C>A
558C>A
559A>G
561C>A
567C>A
571T>G
574G>A
575A>G
577G>A
577G>T
581G>T
592G>C
596A>G
597T>G
595C>T
601G>A
606G>A
610G>A
614C>G
613C>T
618G>T
617T>G
619C>T
G149R
G149*
G149V
M150K
Q151*
M152R
M152V
R153I
A155P
S158N
S158T
L159S
L159*
Y161N
Y161D
Y161C
Y161S
K162E
L165S
L165*
K166E
L167R
S169G
R170C
R170G
I175V
I177T
G178R
G178E
Q179K
L183I
N186K
N187D
N187K
N189K
F191V
D192N
D192G
E193K
E193*
G194V
A198P
H199R
H199Q
H199Y
V201M
W202*
A204T
P205R
P205S
L206F
L206W
Q207*
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Mercier (1995) Am J Hum Genet 56:272
Shastri (2008) J Cyst Fibros 7:110
Pacheco (2006) CFTR LSDB entry Unpublished:.
Kammesheidt (2006) Genet Med 8:557
Shackleton (1992) Hum Mol Genet 1:439
Morokawa (2000) Hum Mutat 15:485
Wong (2004) Electrophoresis 25:2593
Ziętkiewicz (2014) PLoS One 9:e89094
Zielenski (1997) CFTR LSDB entry Newsletter:#70
Hicks (2003) Genet Test 7:73
McGinniss (2005) Hum Genet 118:331
Alonso (2006) Ann Hum Genet 71:194
Andrew (2000) CFTR LSDB entry Pers comm:
des Georges (2004) J Cyst Fibros 3:265
Strandvik (2001) Genet Test 5:235
Hirtz (2004) Gastroenterology 127:1085
Andrew (1999) CFTR LSDB entry Pers comm:
Tzetis (1998) CFTR LSDB entry Newsletter:#70
Quint (2005) Am J Med Genet 136A:246
Ziętkiewicz (2014) PLoS One 9:e89094
Macek (1997) Hum Mutat 9:136
Fresquet (2011) J Mol Diagn 13:520
Deepak (2012) J Pediatr Genet 1:221
Ferec (1994) CFTR LSDB entry Newsletter:#62
Claustres (1992) CFTR LSDB entry Newsletter:#49
Romey (1994) Hum Mol Genet 3:661
Bienvenu (1996) CFTR LSDB entry Newsletter:#68
Zielenski (1991) Genomics 10:229
Soldatova (2004) CFTR LSDB entry Pers comm:
Wong (2004) Electrophoresis 25:2593
Shastri (2008) J Cyst Fibros 7:110
Claustres (1998) CFTR LSDB entry Newsletter:#70
Deepak (2012) J Pediatr Genet 1:221
Gaia (2002) Dig Dis Sci 47:2416
Li (2006) Chin Med J (Engl) 119:103
Groman (2002) N Engl J Med 347:401
Hubert (2004) J Cyst Fibros 3:15
Audrezet (1994) Hum Genet 93:659
Mercier (1995) Am J Hum Genet 56:272
Ferec (1994) CFTR LSDB entry Newsletter:#62
Ferec (1998) CFTR LSDB entry Pers comm:
Walker (1999) CFTR LSDB entry Pers comm:
D'Apice (2004) BMC Med Genet 5:8
Tsui (1992) Hum Mutat 1:197
Doerk (1994) Hum Genet 94:533
Bernardino (2000) Genet Test 4:69
Alonso (2006) Ann Hum Genet 71:194
Mutesa (2008) Chest 135:1233
Ferec (2002) CFTR LSDB entry Pers comm:
Chillon (1993) Hum Mol Genet 2:1741
Ferec (1997) CFTR LSDB entry Newsletter:#69
Claustres (1993) Hum Mol Genet 2:1209
Zielenski (1993) CFTR LSDB entry Newsletter:#58
PubMed 7529962
PubMed 17716958
Source: LSDB
PubMed 16980811
PubMed 1284529
PubMed 10790220
PubMed 15300780
PubMed 24586523
Source: LSDB
PubMed 12820707
PubMed 16189704
PubMed 17331079
Source: LSDB
PubMed 15698946
PubMed 11788090
PubMed 15480987
Source: LSDB
Source: LSDB
PubMed 15948195
PubMed 24586523
PubMed 9067754
PubMed 21708286
PubMed: No PubMed ID
Source: LSDB
Source: LSDB
PubMed 7520799
Source: LSDB
PubMed 1710599
Source: LSDB
PubMed 15300780
PubMed 17716958
Source: LSDB
PubMed: No PubMed ID
PubMed 12452372
PubMed 16454991
PubMed 12167682
PubMed 15463882
PubMed 7516305
PubMed 7529962
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 15084222
PubMed 1284534
PubMed 7525450
PubMed 10794365
PubMed 17331079
PubMed 19017867
Source: LSDB
PubMed 7505694
Source: LSDB
PubMed 7691344
Source: LSDB
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM983545
CM034782
CM094116
CM024666
CM993850
CM972939
CM962458
CM983546
CM940247
CM121017
CM920148
CM962459
CM002751
CM970266
CM941971
CM950241
CM011283
CM993851
CM970268
CM063902
CM950242
CM001962
CM950243
CM043463
CM067756
CM066751
CM024667
CM055925
CM970270
CM952046
CM962763
CM024668
CM066752
CM920149
CM993852
CM962460
CM067754
HM971268
CM941972
CM980334
CM024669
CM920150
CM057582
CM141627
CM960276
CM920151
CM972941
CM931144
CM941973
CM015354
CM043464
CM941974
CM011284
GCA‐TCA
CTC‐CCC
GGG‐GAG
GGG‐GTG
TGG‐TAG
GAG‐GGG
TTG‐TAG
CAG‐CGG
CAG‐TAG
GCC‐GTC
TGT‐CGT
TGT‐TGA
CTT‐CGT
GTC‐GAC
CAG‐GAG
GGG‐AGG
GGG‐AGG
ATG‐CTG
TAC‐TAG
GAA‐TAA
AGA‐GGA
TAC‐TAG
TGC‐TGA
TGG‐CGG
GAA‐GAT
GAA‐TAA
ATG‐ACG
ATT‐TTT
AAC‐TAC
CAA‐TAA
GAA‐AAA
CTG‐ATG
CTG‐CAG
CGG‐CAG
GCA‐ACA
TAC‐TAG
TTC‐GTC
AGC‐AAC
GCC‐GAC
GCC‐GGC
GCC‐ACC
TTC‐CTC
TCA‐TAA
GGG‐AGG
GGG‐CGG
GGG‐GAG
GGG‐GTG
GTG‐GCG
TTA‐TTT
TTA‐TAA
TCT‐CCT
GTG‐GCG
GTG‐ATG
Ala209Ser
Leu210Pro
Gly213Glu
Gly213Val
Trp216Term
Glu217Gly
Leu218Term
Gln220Arg
Gln220Term
Ala223Val
Cys225Arg
Cys225Term
Leu227Arg
Val232Asp
Gln237Glu
Gly239Arg
Gly241Arg
Met243Leu
Tyr247Term
Glu257Term
Arg258Gly
Tyr275Term
Cys276Term
Trp277Arg
Glu279Asp
Glu279Term
Met281Thr
Ile285Phe
Asn287Tyr
Gln290Term
Glu292Lys
Leu293Met
Leu295Gln
Arg297Gln
Ala299Thr
Tyr304Term
Phe305Val
Ser307Asn
Ala309Asp
Ala309Gly
Ala309Thr
Phe311Leu
Ser313Term
Gly314Arg
Gly314Arg
Gly314Glu
Gly314Val
Val317Ala
Leu320Phe
Leu320Term
Ser321Pro
Val322Ala
Val322Met
625G>T
629T>C
638G>A
638G>T
647G>A
650A>G
653T>A
659A>G
658C>T
668C>T
673T>C
675T>A
680T>G
695T>A
709C>G
715G>A
721G>A
727A>C
741C>G
769G>T
772A>G
825C>G
828C>A
829T>C
837A>T
835G>T
842T>C
853A>T
859A>T
868C>T
874G>A
877C>A
884T>A
890G>A
895G>A
912C>G
913T>G
920G>A
926C>A
926C>G
925G>A
931T>C
938C>A
940G>A
940G>C
941G>A
941G>T
950T>C
960A>T
959T>A
961T>C
965T>C
964G>A
A209S
L210P
G213E
G213V
W216*
E217G
L218*
Q220R
Q220*
A223V
C225R
C225*
L227R
V232D
Q237E
G239R
G241R
M243L
Y247*
E257*
R258G
Y275*
C276*
W277R
E279D
E279*
M281T
I285F
N287Y
Q290*
E292K
L293M
L295Q
R297Q
A299T
Y304*
F305V
S307N
A309D
A309G
A309T
F311L
S313*
G314R
G314R
G314E
G314V
V317A
L320F
L320*
S321P
V322A
V322M
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Ferec (1998) CFTR LSDB entry Pers comm:
Girodon (2003) CFTR LSDB entry Pers comm:
Seia (2009) Clin Biochem 42:611
Ferec (2002) CFTR LSDB entry Pers comm:
Yoshimura (1999) CFTR LSDB entry Pers comm:
Zielenski (1997) CFTR LSDB entry Newsletter:#70
Zielenski (1996) CFTR LSDB entry Newsletter:#69
Ferec (1998) CFTR LSDB entry Pers comm:
Shackleton (1994) Hum Mutat 3:141
Carr (2012) Hum Mutat 33:338
Fanen (1992) Genomics 13:770
Mercier (1996) CFTR LSDB entry Newsletter:#69
Dequeker (2000) Eur J Hum Genet 8:S2
Casals (1997) Hum Genet 101:365
Hubert (2004) J Cyst Fibros 3:15
Bienvenu (1995) Hum Hered 45:53
Le Maréchal (2001) Hum Genet 108:290
Yoshimura (1999) CFTR LSDB entry Pers comm:
Tzetis (1997) Hum Genet 99:121
Kammesheidt (2006) Genet Med 8:557
Mercier (1995) Am J Hum Genet 56:272
Bernardino (2000) Genet Test 4:69
Ferec (1995) Mol Cell Probes 9:135
Oller Ramirez (2006) Mol Genet Metab 87:370
Picci (2006) CFTR LSDB entry Unpublished:.
Munthe‐Kaas (2006) Respir Med 100:2121
Casals (2002) CFTR LSDB entry Pers comm:
Schrijver (2005) J Mol Diagn 7:289
Shrimpton (1997) Hum Mutat 10:436
Ferec (1995) CFTR LSDB entry Newsletter:#65
Bienvenu (1996) CFTR LSDB entry Newsletter:#65
Ferec (2002) CFTR LSDB entry Pers comm:
Munthe‐Kaas (2006) Respir Med 100:2121
Tsui (1992) Hum Mutat 1:197
Ferec (1999) CFTR LSDB entry Pers comm:
Ferec (1996) CFTR LSDB entry Newsletter:#67
Poulou (2006) CFTR LSDB entry Unpublished:.
Onay (1998) Hum Genet 102:710
Ferrari (1994) CFTR LSDB entry Newsletter:#64
Cartault (1998) Clin Genet 54:437
Ferec (2002) CFTR LSDB entry Pers comm:
Ferec (1992) Nat Genet 1:188
Torricelli (2005) CFTR LSDB entry Unpublished:.
Ziętkiewicz (2014) PLoS One 9:e89094
Nasr (1996) Hum Mutat 7:151
Tsui (1992) Hum Mutat 1:197
Newsletter:#70
Ferec (1993) CFTR LSDB entry Newsletter:#55
Macek (1994) CFTR LSDB entry Newsletter:#64
Iron (2001) CFTR LSDB entry Pers comm:
Seia (2004) CFTR LSDB entry Pers comm:
Ferec (1994) CFTR LSDB entry Newsletter:#63
Le Maréchal (2001) Hum Genet 108:290
Source: LSDB
Source: LSDB
PubMed 19318035
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 7515303
PubMed 22052625
PubMed 1379210
Source: LSDB
PubMed 11108532
PubMed 9439669
PubMed 15463882
PubMed 7534748
PubMed 11379874
Source: LSDB
PubMed 9003508
PubMed 16980811
PubMed 7529962
PubMed 10794365
PubMed 7541510
PubMed 16423550
Source: LSDB
PubMed 16678395
Source: LSDB
PubMed 15858154
PubMed 9401006
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 16678395
PubMed 1284534
Source: LSDB
Source: LSDB
Source: LSDB
Source: Online submission
Source: LSDB
PubMed 9842999
Source: LSDB
PubMed 1284639
Source: LSDB
PubMed 24586523
PubMed 8829633
PubMed 1284534
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 11379874
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM136672
CM970272
CM952047
CM910070
CM930103
CM930104
CM024671
CM057576
CM940248
CM931146
CM920152
CM930105
CM900044
CM930106
CM067738
CM930107
CM920153
CM034783
CM962462
CM952048
CM003243
CM067769
CM043465
CM983547
CM993853
CM983548
CM983549
CM931147
CM104904
CM021069
CM970274
CM003244
CM1212240
CM067758
CM960277
CM024672
CM003245
CM972942
CM972943
CM983550
CM003246
CM972944
CM930111
CM993854
CM993855
CM940249
CM067729
CM941975
CM003247
CM067748
CM983551
CM087536
CM055927
CTT‐CCT
GGA‐TGA
CGG‐CAG
CGG‐TGG
ATA‐AAA
ACC‐ATC
ATC‐AAC
TCA‐CCA
CTG‐CCG
CGC‐TGC
CGC‐CAC
CGC‐CTC
CGC‐CCC
ATG‐AAG
ATG‐ACG
GCG‐GTG
CGG‐CAG
CGG‐GGG
CGG‐TGG
CAA‐CAC
CAA‐TAA
CCC‐TCC
TGG‐TCG
TGG‐TGA
CAA‐CGA
ACA‐AGA
TGG‐AGG
TGG‐CGG
TAT‐TAA
TAT‐TAG
TCT‐CCT
CTT‐CCT
CAG‐TAG
GAT‐GAG
TTA‐TTC
CAA‐CGA
GAA‐TAA
TTG‐TCG
GTA‐GGA
ATG‐AGG
GCC‐GTC
TGG‐TAG
TGG‐TGA
GAG‐GAC
GAA‐GTA
CAA‐TAA
AAT‐AGT
AAT‐AGT
GGT‐AGT
AGT‐GGT
TCA‐TGA
GGT‐GAT
CCT‐TCT
Leu323Pro
Gly330Term
Arg334Gln
Arg334Trp
Ile336Lys
Thr338Ile
Ile340Asn
Ser341Pro
Leu346Pro
Arg347Cys
Arg347His
Arg347Leu
Arg347Pro
Met348Lys
Met348Thr
Ala349Val
Arg352Gln
Arg352Gly
Arg352Trp
Gln353His
Gln353Term
Pro355Ser
Trp356Ser
Trp356Term
Gln359Arg
Thr360Arg
Trp361Arg
Trp361Arg
Tyr362Term
Tyr362Term
Ser364Pro
Leu365Pro
Gln372Term
Asp373Glu
Leu375Phe
Gln378Arg
Glu379Term
Leu383Ser
Val392Gly
Met394Arg
Ala399Val
Trp401Term
Trp401Term
Glu403Asp
Glu407Val
Gln414Term
Asn416Ser
Asn418Ser
Gly424Ser
Ser431Gly
Ser434Term
Gly437Asp
Pro439Ser
968T>C
988G>T
1001G>A
1000C>T
1007T>A
1013C>T
1019T>A
1021T>C
1037T>C
1039C>T
1040G>A
1040G>T
1040G>C
1043T>A
1043T>C
1046C>T
1055G>A
1054C>G
1054C>T
1059A>C
1057C>T
1063C>T
1067G>C
1068G>A
1076A>G
1079C>G
1081T>A
1081T>C
1086T>A
1086T>G
1090T>C
1094T>C
1114C>T
1119T>G
1125A>C
1133A>G
1135G>T
1148T>C
1175T>G
1181T>G
1196C>T
1202G>A
1203G>A
1209G>C
1220A>T
1240C>T
1247A>G
1253A>G
1270G>A
1291A>G
1301C>G
1310G>A
1315C>T
L323P
G330*
R334Q
R334W
I336K
T338I
I340N
S341P
L346P
R347C
R347H
R347L
R347P
M348K
M348T
A349V
R352Q
R352G
R352W
Q353H
Q353*
P355S
W356S
W356*
Q359R
T360R
W361R
W361R
Y362*
Y362*
S364P
L365P
Q372*
D373E
L375F
Q378R
E379*
L383S
V392G
M394R
A399V
W401*
W401*
E403D
E407V
Q414*
N416S
N418S
G424S
S431G
S434*
G437D
P439S
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Prach (2013) J Mol Diagn epub:epub
Macek (1997) Am J Hum Genet 60:1122
Ferec (1995) CFTR LSDB entry Newsletter:#65
Gasparini (1991) Genomics 10:193
Cuppens (1993) Genomics 18:693
Saba (1993) Hum Mol Genet 2:1739
Ferec (2002) CFTR LSDB entry Pers comm:
Wang (2005) CFTR LSDB entry Unpublished:.
Boteva (1994) Hum Genet 93:529
Ferec (1993) CFTR LSDB entry Newsletter:#56
Cremonesi (1992) Hum Mutat 1:314
Audrezet (1993) Hum Mol Genet 2:51
Dean (1990) Cell 61:863
Audrezet (1993) Hum Hered 43:295
Picci (2006) CFTR LSDB entry Unpublished:.
Audrezet (1993) Hum Mol Genet 2:51
Cremonesi (1992) Hum Mutat 1:314
Girodon (2003) CFTR LSDB entry Pers comm:
Schrijver (2005) J Mol Diagn 7:289
Ferec (1995) CFTR LSDB entry Newsletter:#65
Seia (2000) CFTR LSDB entry Pers comm:
Picci (2006) CFTR LSDB entry Unpublished:.
Barbolina (2004) CFTR LSDB entry Pers comm:
Ellis (1998) CFTR LSDB entry Newsletter:#70
Ferec (1999) CFTR LSDB entry Pers comm:
Ferec (1998) CFTR LSDB entry Pers comm:
Alonso (2006) Ann Hum Genet 71:194
Bienvenu (1993) CFTR LSDB entry Newsletter:#56
Makukh (2010) J Cyst Fibros 9:371
Visich (2002) Clin Genet 61:207
Macek (1997) Am J Hum Genet 60:1122
Alonso (2006) Ann Hum Genet 71:194
Křenková (2013) J Cyst Fibros 12:532
Picci (2006) CFTR LSDB entry Unpublished:.
Jezequel (1996) Hum Genet 97:548
Tzetis (2002) CFTR LSDB entry Pers comm:
Glaeser (2000) CFTR LSDB entry Pers comm:
Casals (2000) Hum Reprod 15:1476
Zielenski (1997) CFTR LSDB entry Newsletter:#70
Ferec (1998) CFTR LSDB entry Pers comm:
Yoshimura (2000) CFTR LSDB entry Pers comm:
Schrijver (2005) J Mol Diagn 7:375
Cuppens (1993) Genomics 18:693
Ferec (1999) CFTR LSDB entry Pers comm:
Zielenski (1999) CFTR LSDB entry Pers comm:
Doerk (1994) Hum Genet 93:67
Picci (2006) CFTR LSDB entry Unpublished:.
Sava (1994) CFTR LSDB entry Newsletter:#64
Bienvenu (2000) CFTR LSDB entry Pers comm:
Picci (2006) CFTR LSDB entry Unpublished:.
Leymarie (1998) CFTR LSDB entry Newsletter:#70
Kolesár (2008) Gen Physiol Biophys 27:299
Schrijver (2005) J Mol Diagn 7:289
PubMed 23810505
PubMed 9150159
Source: LSDB
PubMed 2045102
PubMed 7508414
PubMed 7505693
Source: LSDB
Source: LSDB
PubMed 7513296
Source: LSDB
PubMed 1284538
PubMed 7683952
PubMed 2344617
PubMed 8406518
Source: LSDB
PubMed 7683952
PubMed 1284538
Source: LSDB
PubMed 15858154
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 17331079
Source: LSDB
PubMed 20659818
PubMed 12000363
PubMed 9150159
PubMed 17331079
PubMed 23276700
Source: LSDB
PubMed 8834261
Source: LSDB
Source: LSDB
PubMed 10875853
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 16049310
PubMed 7508414
Source: LSDB
Source: LSDB
PubMed 7505767
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 19202204
PubMed 15858154
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM102814
CM993856
CM074731
CM055125
CM972945
CM900045
CM022334
CM940250
CM1110465
CM920154
CM021554
CM034784
CM063897
CM960278
CM940251
CM063898
CM107799
CM994784
CM074728
CM952251
CM920155
CM015355
CM055126
CM983552
CM993857
CM952050
CM032555
CM970276
CM983553
CM920156
CM940252
CM090069
CM024232
CM900046
CM940253
CM057571
CM993858
CM024676
CM983554
CM920157
CM972947
CM983555
CM940255
CM940254
CM950244
CM900047
CM900048
CM983556
CM024677
CM024678
CM972948
CM941976
CM920158
CTG‐CCG
ATT‐AGT
ATT‐ACT
GGA‐GTA
CAG‐CCG
GCG‐GAG
GTT‐GCT
GTT‐TTT
GCT‐CCT
GGA‐GTA
GGC‐GAC
AAG‐AAT
ACT‐AAT
TCA‐TAA
TCA‐TGA
CTT‐TTT
CTT‐CCT
GAA‐AAA
GAG‐TAG
GGT‐GAT
GGT‐TGT
GGT‐AGT
AAA‐GAA
CAC‐CGC
AGT‐TGT
GGA‐TGA
ATT‐ATG
TCA‐TAA
TGT‐CGT
TCT‐TTT
CAG‐CGG
CAG‐CTG
CAG‐CCG
CAG‐TAG
TGG‐TAG
ATG‐ATC
ACC‐GCC
ATT‐AAT
ATT‐ACT
GAA‐CAA
GAA‐TAA
ATC‐CTC
ATC‐ATG
ATC‐AGC
ATC‐ACC
ATC‐GTC
TTT‐TGT
TTT‐TCT
TAT‐CAT
AGA‐GGA
TAC‐TGC
GTC‐ATC
GTC‐TTC
Leu441Pro
Ile444Ser
Ile444Thr
Gly451Val
Gln452Pro
Ala455Glu
Val456Ala
Val456Phe
Ala457Pro
Gly458Val
Gly463Asp
Lys464Asn
Thr465Asn
Ser466Term
Ser466Term
Leu467Phe
Leu467Pro
Glu474Lys
Glu479Term
Gly480Asp
Gly480Cys
Gly480Ser
Lys481Glu
His484Arg
Ser485Cys
Gly486Term
Ile488Met
Ser489Term
Cys491Arg
Ser492Phe
Gln493Arg
Gln493Leu
Gln493Pro
Gln493Term
Trp496Term
Met498Ile
Thr501Ala
Ile502Asn
Ile502Thr
Glu504Gln
Glu504Term
Ile506Leu
Ile506Met
Ile506Ser
Ile506Thr
Ile506Val
Phe508Cys
Phe508Ser
Tyr515His
Arg516Gly
Tyr517Cys
Val520Ile
Val520Phe
1322T>C
1331T>G
1331T>C
1352G>T
1355A>C
1364C>A
1367T>C
1366G>T
1369G>C
1373G>T
1388G>A
1392G>T
1394C>A
1397C>A
1397C>G
1399C>T
1400T>C
1420G>A
1435G>T
1439G>A
1438G>T
1438G>A
1441A>G
1451A>G
1453A>T
1456G>T
1464T>G
1466C>A
1471T>C
1475C>T
1478A>G
1478A>T
1478A>C
1477C>T
1487G>A
1494G>C
1501A>G
1505T>A
1505T>C
1510G>C
1510G>T
1516A>C
1518C>G
1517T>G
1517T>C
1516A>G
1523T>G
1523T>C
1543T>C
1546A>G
1550A>G
1558G>A
1558G>T
L441P
I444S
I444T
G451V
Q452P
A455E
V456A
V456F
A457P
G458V
G463D
K464N
T465N
S466*
S466*
L467F
L467P
E474K
E479*
G480D
G480C
G480S
K481E
H484R
S485C
G486*
I488M
S489*
C491R
S492F
Q493R
Q493L
Q493P
Q493*
W496*
M498I
T501A
I502N
I502T
E504Q
E504*
I506L
I506M
I506S
I506T
I506V
F508C
F508S
Y515H
R516G
Y517C
V520I
V520F
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Gee (2010) J Korean Med Sci 25:166
Zielenski (1999) CFTR LSDB entry Pers comm:
Pasquet (2007) CFTR LSDB entry Unpublished:.
McGinniss (2005) Hum Genet 118:331
Claustres (1997) CFTR LSDB entry Newsletter:#70
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
McCormick (2002) Eur J Hum Genet 10:583
Doerk (1994) Hum Genet 93:67
Cole (2011) Case Report Med 2011:
Tsui (1992) Hum Mutat 1:197
Groman (2002) N Engl J Med 347:401
Bieth (2003) CFTR LSDB entry Pers comm:
Kammesheidt (2006) Genet Med 8:557
Mittre (1996) Hum Mutat 8:392
Deufel (1994) Hum Mutat 3:64
Elahi (2006) J Mol Diagn 8:119
Jambhekar (2010) J Cyst Fibros 9:269
Girodon (1999) CFTR LSDB entry Pers comm:
Narzi (2007) CFTR LSDB entry Unpublished:.
Hawworth (1995) CFTR LSDB entry Newsletter:#66
Tsui (1992) Hum Mutat 1:197
Kawasoe (2001) CFTR LSDB entry Pers comm:
McGinniss (2005) Hum Genet 118:331
Ferec (1998) CFTR LSDB entry Pers comm:
Andrew (1999) CFTR LSDB entry Pers comm:
Hughes (1995) CFTR LSDB entry Newsletter:#65
Korytina (2003) Mol Biol (Mosk) 37:61
Plouvier (1997) Ann Genet 40:185
Newsletter:#70
Ferec (1992) Nat Genet 1:188
Savov (1994) Hum Mol Genet 3:57
Sharma (2009) Ann Hum Genet 73:26
Kilinc (2002) Am J Med Genet 113:250
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
Balassopoulou (1994) Hum Mol Genet 3:1887
Bienvenu (2005) CFTR LSDB entry Unpublished:.
Schrijver (2005) J Mol Diagn 7:289
Hinks (2002) CFTR LSDB entry Pers comm:
Newsletter:#70
Tsui (1992) Hum Mutat 1:197
Casals (1997) CFTR LSDB entry Newsletter:#69
Strandvik (2001) Genet Test 5:235
Chevalier‐Porst (1994) J Med Genet 31:541
Deufel (1994) Hum Mutat 3:64
Desgeorges (1995) Hum Mutat 6:279
Kobayashi (1990) Am J Hum Genet 47:611
Kobayashi (1990) Am J Hum Genet 47:611
Ferec (1998) CFTR LSDB entry Pers comm:
Mittre (2002) CFTR LSDB entry Pers comm:
Arduino (2002) CFTR LSDB entry Pers comm:
Arduino (1997) CFTR LSDB entry Newsletter:#70
Bienvenu (2005) Hum Biol 77:705
Jones (1992) Hum Mol Genet 1:11
PubMed 20052366
Source: LSDB
Source: LSDB
PubMed 16189704
Source: LSDB
PubMed 2236053
PubMed 12357328
PubMed 7505767
PubMed 22194755
PubMed 1284534
PubMed 12167682
Source: LSDB
PubMed 16980811
PubMed 8956053
PubMed 7509683
PubMed 16436643
PubMed 20510657
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 1284534
Source: LSDB
PubMed 16189704
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 12624947
PubMed 9401110
Source: LSDB
PubMed 1284639
PubMed 7512860
PubMed 18782298
PubMed 12439892
PubMed 2236053
PubMed 7531541
Source: LSDB
PubMed 15858154
Source: LSDB
Source: LSDB
PubMed 1284534
Source: LSDB
PubMed 11788090
PubMed 7525963
PubMed 7509683
PubMed: No PubMed ID
PubMed 1977306
PubMed 1977306
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 16596947
PubMed 1284466
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM051411
CM920159
CM940256
CM972949
CM074733
CM983557
CM090070
CM086646
CM001650
CM930112
CM952051
CM900049
CM941977
CM900052
CM910071
CM900050
CM900051
CM952052
CM920984
CM900053
CM920160
CM962464
CM910072
CM920161
CM931148
CM900054
CM930113
CM993859
CM920162
CM994785
CM900055
CM067759
CM024679
CM920163
CM980338
CM992306
CM900056
CM970278
CM990362
CM960279
CM900057
CM970279
CM962465
CM1212241
CM063900
CM078046
CM034786
CM970280
CM980339
CM960280
CM001651
CM931149
CM970282
ATC‐TTC
TGC‐TGA
CAA‐TAA
GAA‐CAA
GAC‐GGC
GAC‐CAC
ATC‐CTC
TCC‐CCC
TTT‐CTT
GCA‐GAA
ATA‐ACA
GGA‐TGA
GGT‐AGT
AGT‐AGG
AGT‐CGT
AGT‐AAT
AGT‐ATT
GGA‐AGA
GGA‐TGA
GGT‐GAT
GGT‐AGT
CAA‐AAA
CAA‐TAA
CGA‐CAA
CGA‐GGA
CGA‐TGA
GCA‐GAA
AGA‐GGA
TTA‐TCA
GCA‐GAA
GCA‐ACA
GCA‐GTA
AGA‐GGA
AGA‐AAA
AGA‐AGC
AGA‐AGT
AGA‐ACA
GCA‐GAA
GTA‐ATA
GTA‐CTA
TAC‐AAC
TAC‐GAC
TAC‐TGC
TAC‐CAC
TAC‐TAA
GCT‐GAT
GCT‐ACT
TTG‐TAG
TAT‐GAT
TAT‐TGT
TAT‐CAT
TAT‐TAA
TTA‐TCA
Ile521Phe
Cys524Term
Gln525Term
Glu527Gln
Asp529Gly
Asp529His
Ile530Leu
Ser531Pro
Phe533Leu
Ala534Glu
Ile539Thr
Gly542Term
Gly544Ser
Ser549Arg
Ser549Arg
Ser549Asn
Ser549Ile
Gly550Arg
Gly550Term
Gly551Asp
Gly551Ser
Gln552Lys
Gln552Term
Arg553Gln
Arg553Gly
Arg553Term
Ala554Glu
Arg555Gly
Leu558Ser
Ala559Glu
Ala559Thr
Ala559Val
Arg560Gly
Arg560Lys
Arg560Ser
Arg560Ser
Arg560Thr
Ala561Glu
Val562Ile
Val562Leu
Tyr563Asn
Tyr563Asp
Tyr563Cys
Tyr563His
Tyr563Term
Ala566Asp
Ala566Thr
Leu568Term
Tyr569Asp
Tyr569Cys
Tyr569His
Tyr569Term
Leu571Ser
1561A>T
1572C>A
1573C>T
1579G>C
1586A>G
1585G>C
1588A>C
1591T>C
1597T>C
1601C>A
1616T>C
1624G>T
1630G>A
1647T>G
1645A>C
1646G>A
1646G>T
1648G>A
1648G>T
1652G>A
1651G>A
1654C>A
1654C>T
1658G>A
1657C>G
1657C>T
1661C>A
1663A>G
1673T>C
1676C>A
1675G>A
1676C>T
1678A>G
1679G>A
1680A>C
1680A>T
1679G>C
1682C>A
1684G>A
1684G>C
1687T>A
1687T>G
1688A>G
1687T>C
1689C>A
1697C>A
1696G>A
1703T>A
1705T>G
1706A>G
1705T>C
1707T>A
1712T>C
I521F
C524*
Q525*
E527Q
D529G
D529H
I530L
S531P
F533L
A534E
I539T
G542*
G544S
S549R
S549R
S549N
S549I
G550R
G550*
G551D
G551S
Q552K
Q552*
R553Q
R553G
R553*
A554E
R555G
L558S
A559E
A559T
A559V
R560G
R560K
R560S
R560S
R560T
A561E
V562I
V562L
Y563N
Y563D
Y563C
Y563H
Y563*
A566D
A566T
L568*
Y569D
Y569C
Y569H
Y569*
L571S
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Patrinos (2005) CFTR LSDB entry :
Jones (1992) Hum Mol Genet 1:11
Shackleton (1994) Hum Mutat 3:141
Byrne (1997) CFTR LSDB entry Newsletter:#70
Brakensiek (2007) CFTR LSDB entry Unpublished:.
Ferec (1998) CFTR LSDB entry Pers comm:
Sharma (2009) Ann Hum Genet 73:26
Laguna (2008) J Cyst Fibros 7:454
Kambouris (2000) Eur J Pediatr 159:303
Audrezet (1993) Hum Mol Genet 2:51
Chomel (1995) CFTR LSDB entry Newsletter:#66
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
Ferec (1994) CFTR LSDB entry Newsletter:#61
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
Sangiuolo (1991) Genomics 9:788
Cutting (1990) Nature 346:366
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
Ferec (1995) CFTR LSDB entry Newsletter:#66
Deiman (1992) CFTR LSDB entry Newsletter:#43
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
Tsui (1992) Hum Mutat 1:197
Faucz (1996) CFTR LSDB entry Newsletter:#69
Devoto (1991) Am J Hum Genet 48:1127
Tsui (1992) Hum Mutat 1:197
Schrijver (2005) J Mol Diagn 7:375
Cutting (1990) Nature 346:366
Audrezet (1993) Hum Mol Genet 2:51
Zielenski (1999) CFTR LSDB entry Pers comm:
Tsui (1992) Hum Mutat 1:197
Girodon (1999) CFTR LSDB entry Pers comm:
Cutting (1990) Nature 346:366
Girodon (2006) CFTR LSDB entry Unpublished:.
Alonso (2006) Ann Hum Genet 71:194
Ferec (1992) Nat Genet 1:188
Malone (1998) Hum Mutat 11:152
Liechti (1999) Eur J Hum Genet 7:590
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
Casals (1997) Hum Genet 101:365
Telleria (1999) Hum Mutat 14:89
Hughes (1996) Hum Mutat 8:340
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
Macek (1997) Am J Hum Genet 60:1122
Delhaize (1996) CFTR LSDB entry Newsletter:#67
Křenková (2013) J Cyst Fibros 12:532
Elahi (2006) J Mol Diagn 8:119
Alibakhshi (2008) J Cyst Fibros 7:102
Wallace (2003) CFTR LSDB entry Pers comm:
Macek (1997) Hum Mutat 9:136
Malone (1998) Hum Mutat 11:152
Petreska (1996) Hum Mutat 7:374
Kabra (2000) Am J Med Genet 93:161
Ferec (1993) CFTR LSDB entry Newsletter:#54
Casals (1997) Hum Genet 101:365
Source: LSDB
PubMed 1284466
PubMed 7515303
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 18782298
PubMed 18463004
PubMed 10834512
PubMed 7683952
Source: LSDB
PubMed 2236053
Source: LSDB
PubMed 2236053
PubMed 1903761
PubMed 1695717
PubMed 2236053
Source: LSDB
Source: LSDB
PubMed 2236053
PubMed 1284534
Source: LSDB
PubMed 1709778
PubMed 1284534
PubMed 16049310
PubMed 1695717
PubMed 7683952
Source: LSDB
PubMed 1284534
Source: LSDB
PubMed 1695717
Source: LSDB
PubMed 17331079
PubMed 1284639
PubMed 9482579
PubMed 10439967
PubMed 2236053
PubMed 9439669
PubMed 10447267
PubMed 8956039
PubMed 2236053
PubMed 9150159
Source: LSDB
PubMed 23276700
PubMed 16436643
PubMed 17662673
Source: LSDB
PubMed 9067754
PubMed 9482579
PubMed 8723693
PubMed 10869121
Source: LSDB
PubMed 9439669
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM950245
CM900058
CM962466
CM962467
CM983558
CM950246
CM941978
CM940257
CM962468
CM920165
CM067730
CM022335
CM055924
CM056941
CM056942
CM074732
CM067739
CM067741
CM972950
CM980340
CM057326
CM983559
CM055922
CM024233
CM972951
CM067750
CM980341
CM980342
CM930114
CM994787
CM970283
CM940258
CM980344
CM980343
CM980345
CM920166
CM931150
CM067733
CM980346
CM962764
CM983560
CM993860
CM024681
CM940259
CM983561
CM972952
CM067772
CM970284
CM960281
CM950247
CM940260
CM993861
CM003248
GAC‐AAC
CCT‐CAT
GGA‐TGA
TAC‐TTC
GAT‐GCT
GAT‐GGT
GAT‐TAT
ACA‐AGA
ACA‐ATA
GAA‐TAA
ATA‐GTA
GAA‐TAA
GAA‐GTA
AGC‐AAC
AGC‐ACC
CTG‐CCG
ATG‐ACG
AAA‐TAA
AGG‐GGG
ATT‐TTT
ATT‐ACT
GTC‐TTC
ACT‐AGT
GAA‐GGA
CAT‐CGT
CAT‐CTT
TTA‐TCA
GCT‐ACT
GAC‐GGC
GAC‐TAC
ATT‐ACT
TTG‐TCG
CAT‐CAG
CAT‐CCT
GGT‐GAT
GGG‐AGG
GGG‐CGG
CTC‐ATC
CTC‐CCC
CAA‐TAA
CTA‐CCA
CAG‐TAG
GAC‐TAC
GAT‐GTT
GAC‐AAC
GAA‐TAA
TCA‐ACA
GAG‐TAG
ACC‐TCC
CGT‐TGT
GGA‐TGA
TGG‐TAG
AAA‐AGA
Asp572Asn
Pro574His
Gly576Term
Tyr577Phe
Asp579Ala
Asp579Gly
Asp579Tyr
Thr582Arg
Thr582Ile
Glu585Term
Ile586Val
Glu588Term
Glu588Val
Ser589Asn
Ser589Thr
Leu594Pro
Met595Thr
Lys598Term
Arg600Gly
Ile601Phe
Ile601Thr
Val603Phe
Thr604Ser
Glu608Gly
His609Arg
His609Leu
Leu610Ser
Ala613Thr
Asp614Gly
Asp614Tyr
Ile618Thr
Leu619Ser
His620Gln
His620Pro
Gly622Asp
Gly628Arg
Gly628Arg
Leu633Ile
Leu633Pro
Gln634Term
Leu636Pro
Gln637Term
Asp639Tyr
Asp648Val
Asp651Asn
Glu656Term
Ser660Thr
Glu664Term
Thr665Ser
Arg668Cys
Gly673Term
Trp679Term
Lys683Arg
1714G>A
1721C>A
1726G>T
1730A>T
1736A>C
1736A>G
1735G>T
1745C>G
1745C>T
1753G>T
1756A>G
1762G>T
1763A>T
1766G>A
1766G>C
1781T>C
1784T>C
1792A>T
1798A>G
1801A>T
1802T>C
1807G>T
1811C>G
1823A>G
1826A>G
1826A>T
1829T>C
1837G>A
1841A>G
1840G>T
1853T>C
1856T>C
1860T>G
1859A>C
1865G>A
1882G>A
1882G>C
1897C>A
1898T>C
1900C>T
1907T>C
1909C>T
1915G>T
1943A>T
1951G>A
1966G>T
1978T>A
1990G>T
1993A>T
2002C>T
2017G>T
2036G>A
2048A>G
D572N
P574H
G576*
Y577F
D579A
D579G
D579Y
T582R
T582I
E585*
I586V
E588*
E588V
S589N
S589T
L594P
M595T
K598*
R600G
I601F
I601T
V603F
T604S
E608G
H609R
H609L
L610S
A613T
D614G
D614Y
I618T
L619S
H620Q
H620P
G622D
G628R
G628R
L633I
L633P
Q634*
L636P
Q637*
D639Y
D648V
D651N
E656*
S660T
E664*
T665S
R668C
G673*
W679*
K683R
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Verlingue (1995) Hum Mutat 5:205
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
Girodon (1996) CFTR LSDB entry Newsletter:#67
Pagani (2003) Hum Mol Genet 12:1111
Pacheco (1998) CFTR LSDB entry Newsletter:#70
Brancolini (1995) Hum Genet 96:312
Harris (1994) CFTR LSDB entry Newsletter:#63
Chillon (1994) Hum Genet 93:447
des Georges (2004) J Cyst Fibros 3:265
Cremonesi (1992) Hum Mutat 1:314
Picci (2006) CFTR LSDB entry Unpublished:.
Spitzer (2002) Eur Respir J 19:374
Schrijver (2005) J Mol Diagn 7:289
Stanziale (2005) Genet Test 9:285
Kinnunen (2005) J Cyst Fibros 4:233
Omar (2007) CFTR LSDB entry Unpublished:.
Pasquet (2006) CFTR LSDB entry Unpublished:.
Seia (2006) CFTR LSDB entry Unpublished:.
Hubert (2004) J Cyst Fibros 3:15
Vankeerberghen (1998) Hum Mol Genet 7:1761
Bienvenu (2005) Hum Biol 77:705
Strandvik (2001) Genet Test 5:235
Schrijver (2005) J Mol Diagn 7:289
Kilinc (2002) Am J Med Genet 113:250
Padoan (2002) Acta Paediatr 91:82
Petrocchi (2006) CFTR LSDB entry Unpublished:.
Vankeerberghen (1998) Hum Mol Genet 7:1761
Vankeerberghen (1998) Hum Mol Genet 7:1761
Audrezet (1993) Hum Hered 43:295
Girodon (1999) CFTR LSDB entry Pers comm:
Macek (1997) Am J Hum Genet 60:1122
Doerk (1994) Hum Genet 94:533
Vankeerberghen (1998) Hum Mol Genet 7:1761
Vankeerberghen (1998) Hum Mol Genet 7:1761
Vankeerberghen (1998) Hum Mol Genet 7:1761
Fanen (1992) Genomics 13:770
Cuppens (1993) Genomics 18:693
Pacheco (2006) CFTR LSDB entry Unpublished:.
Vankeerberghen (1998) Hum Mol Genet 7:1761
Newsletter:#69
Bombieri (1998) CFTR LSDB entry Newsletter:#70
Hirtz (2004) Gastroenterology 127:1085
Aulehla‐Scholz (2002) CFTR LSDB entry Pers comm:
Mercier (1994) Hum Genet 94:629
Bombieri (1998) CFTR LSDB entry Newsletter:#70
Aznarez (2003) Hum Mol Genet 12:2031
Picci (2006) CFTR LSDB entry Unpublished:.
Clavel (1997) Hum Mutat 9:368
Messaoud (1996) Eur J Hum Genet 4:20
Chillon (1995) N Engl J Med 332:1475
Doerk (1994) Hum Genet 94:533
Walker (1999) CFTR LSDB entry Pers comm:
Chevalier‐Porst (2000) CFTR LSDB entry Pers comm:
PubMed 7541273
PubMed 2236053
Source: LSDB
PubMed 12719375
Source: LSDB
PubMed 7544319
Source: LSDB
PubMed 7513293
PubMed 15698946
PubMed 1284538
Source: LSDB
PubMed 11866018
PubMed 15858154
PubMed 16379540
PubMed 16051530
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 15463882
PubMed 9736778
PubMed 16596947
PubMed 11788090
PubMed 15858154
PubMed 12439892
PubMed 11883825
Source: LSDB
PubMed 9736778
PubMed 9736778
PubMed 8406518
Source: LSDB
PubMed 9150159
PubMed 7525450
PubMed 9736778
PubMed 9736778
PubMed 9736778
PubMed 1379210
PubMed 7508414
Source: LSDB
PubMed 9736778
Source: LSDB
Source: LSDB
PubMed 15480987
Source: LSDB
PubMed 7527370
Source: LSDB
PubMed 12913074
Source: LSDB
PubMed 9101301
PubMed 8800923
PubMed 7739684
PubMed 7525450
Source: LSDB
Source: LSDB
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM940261
CM067765
CM034787
CM970285
CM930115
CM116799
CM972953
CM024683
CM950248
CM920167
CM024684
CM930116
CM940262
CM993862
CM983562
CM930117
CM970286
CM015357
CM057581
CM000667
CM024686
CM000668
CM993863
CM960282
CM972954
CM972955
CM023615
CM941979
CM067731
CM930118
CM950249
CM072949
CM067767
CM024687
CM035676
CM930119
CM970287
CM983563
CM980350
CM920168
CM024688
CM930120
CM960283
CM920986
CM067736
CM930121
CM900059
CM994348
CM970288
CM910073
CM088455
CM094117
CM920169
CAA‐TAA
AAA‐TAA
CAG‐TAG
GAG‐TAG
TTT‐CTT
AAA‐AGA
AAG‐AGG
CGA‐CAA
CGA‐TGA
AAA‐TAA
TCC‐TGC
AAG‐TAG
TTA‐TAA
CAA‐TAA
GAA‐AAA
GAG‐TAG
TTA‐TGA
AGG‐AAG
GGA‐TGA
CCT‐CTT
CGC‐CCC
GTG‐ATG
ACG‐ATG
CGA‐TGA
TCA‐TGA
CAG‐TAG
AAC‐AAA
CGA‐TGA
ACA‐ATA
CGA‐TGA
GCA‐GGA
GAT‐GGT
ATA‐GTA
TCT‐CCT
CAA‐TAA
GAA‐AAA
GAA‐TAA
GAA‐TAA
GAA‐AAA
GAA‐TAA
GAC‐GGC
AAG‐TAG
GAG‐TAG
GAT‐TAT
ATA‐ACA
TGG‐TAG
TGG‐TGA
TAC‐TAA
CGA‐CTA
CGA‐TGA
TAT‐TAG
GTC‐ATC
TGC‐TAC
Gln685Term
Lys688Term
Gln689Term
Glu692Term
Phe693Leu
Lys696Arg
Lys698Arg
Arg709Gln
Arg709Term
Lys710Term
Ser712Cys
Lys716Term
Leu719Term
Gln720Term
Glu725Lys
Glu730Term
Leu732Term
Arg735Lys
Gly745Term
Pro750Leu
Arg751Pro
Val754Met
Thr760Met
Arg764Term
Ser776Term
Gln781Term
Asn782Lys
Arg785Term
Thr788Ile
Arg792Term
Ala800Gly
Asp806Gly
Ile807Val
Ser813Pro
Gln814Term
Glu822Lys
Glu822Term
Glu823Term
Glu826Lys
Glu827Term
Asp828Gly
Lys830Term
Glu831Term
Asp836Tyr
Ile840Thr
Trp846Term
Trp846Term
Tyr849Term
Arg851Leu
Arg851Term
Tyr852Term
Val855Ile
Cys866Tyr
2053C>T
2062A>T
2065C>T
2074G>T
2077T>C
2087A>G
2093A>G
2126G>A
2125C>T
2128A>T
2135C>G
2146A>T
2156T>A
2158C>T
2173G>A
2188G>T
2195T>G
2204G>A
2233G>T
2249C>T
2252G>C
2260G>A
2279C>T
2290C>T
2327C>G
2341C>T
2346C>A
2353C>T
2363C>T
2374C>T
2399C>G
2417A>G
2419A>G
2437T>C
2440C>T
2464G>A
2464G>T
2467G>T
2476G>A
2479G>T
2483A>G
2488A>T
2491G>T
2506G>T
2519T>C
2537G>A
2538G>A
2547C>A
2552G>T
2551C>T
2556T>G
2563G>A
2597G>A
Q685*
K688*
Q689*
E692*
F693L
K696R
K698R
R709Q
R709*
K710*
S712C
K716*
L719*
Q720*
E725K
E730*
L732*
R735K
G745*
P750L
R751P
V754M
T760M
R764*
S776*
Q781*
N782K
R785*
T788I
R792*
A800G
D806G
I807V
S813P
Q814*
E822K
E822*
E823*
E826K
E827*
D828G
K830*
E831*
D836Y
I840T
W846*
W846*
Y849*
R851L
R851*
Y852*
V855I
C866Y
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Audrezet (1994) Hum Genet 93:659
Gimenez (2006) CFTR LSDB entry Unpublished:.
Girodon (2003) CFTR LSDB entry Pers comm:
Casals (1997) Hum Genet 101:365
Audrezet (1993) Hum Hered 43:295
Fresquet (2011) J Mol Diagn 13:520
Ferec (1997) CFTR LSDB entry Newsletter:#69
Wagner (2002) CFTR LSDB entry Pers comm:
Bonizzato (1995) Hum Genet 95:397
Fanen (1992) Genomics 13:770
Ferec (2002) CFTR LSDB entry Pers comm:
Audrezet (1993) Hum Mol Genet 2:51
Doerk (1994) Hum Genet 94:533
Malone (1999) CFTR LSDB entry Pers comm:
des Georges (2004) J Cyst Fibros 3:265
Cuppens (1993) Genomics 18:693
Tzetis (1997) Hum Genet 99:121
Frentescu (2008) J Cyst Fibros 7:423
Bienvenu (2005) CFTR LSDB entry Unpublished:.
Orozco (2000) Hum Genet 106:360
Ferec (2002) CFTR LSDB entry Pers comm:
Orozco (2000) Hum Genet 106:360
Zielenski (1999) CFTR LSDB entry Pers comm:
Hughes (1996) Hum Mutat 8:340
des Georges (2004) J Cyst Fibros 3:265
Zhou (1997) CFTR LSDB entry Newsletter:#69
Girodon (2002) J Hepatol 37:192
Frentescu (2008) J Cyst Fibros 7:423
Picci (2006) CFTR LSDB entry Unpublished:.
Claustres (1993) Hum Mol Genet 2:1209
Mercier (1995) Am J Hum Genet 56:272
Narzi (2007) Clin Genet 72:39
Picci (2006) CFTR LSDB entry Unpublished:.
Tzetis (2002) CFTR LSDB entry Pers comm:
Ahmed (2003) Gut 52:1159
Mercier (1993) Hum Mutat 2:16
Tzetis (1997) Hum Genet 99:121
Tzetis (1998) CFTR LSDB entry Newsletter:#70
Vankeerberghen (1998) Hum Mol Genet 7:1761
Ferec (1992) Nat Genet 1:188
Ferec (2002) CFTR LSDB entry Pers comm:
Mercier (1993) Hum Mutat 2:16
Hughes (1996) Hum Mutat 8:340
des Georges (2004) J Cyst Fibros 3:265
Picci (2006) CFTR LSDB entry Unpublished:.
Cheadle (1993) Hum Mol Genet 2:1067
Vidaud (1990) Hum Genet 85:446
Castaldo (1999) Hum Mutat 14:272
Casals (1997) Hum Genet 101:365
White (1991) Genomics 11:778
Bulman (2008) CFTR LSDB entry Unpublished:.
Seia (2009) Clin Biochem 42:611
Tsui (1992) Hum Mutat 1:197
PubMed 7516305
Source: LSDB
Source: LSDB
PubMed 9439669
PubMed 8406518
PubMed 21708286
Source: LSDB
Source: LSDB
PubMed 7535742
PubMed 1379210
Source: LSDB
PubMed 7683952
PubMed 7525450
Source: LSDB
PubMed 15698946
PubMed 7508414
PubMed 9003508
PubMed 18467194
Source: LSDB
PubMed 10798368
Source: LSDB
PubMed 10798368
Source: LSDB
PubMed 8956039
PubMed 15698946
Source: LSDB
PubMed 12127423
PubMed 18467194
Source: LSDB
PubMed 7691344
PubMed 7529962
PubMed 17594398
Source: LSDB
Source: LSDB
PubMed 12865275
PubMed 8477260
PubMed 9003508
Source: LSDB
PubMed 9736778
PubMed 1284639
Source: LSDB
PubMed 8477260
PubMed 8956039
PubMed 15698946
Source: LSDB
PubMed 7689897
PubMed 2210768
PubMed 10477439
PubMed 9439669
PubMed 1723056
Source: LSDB
PubMed 19318035
PubMed 1284534
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM962469
CM962470
CM983564
CM920170
CM983565
CM004880
CM003249
CM004462
CM940263
CM930122
CM900060
CM055926
CM063901
CM962471
CM960284
CM940264
CM980351
CM074093
CM940265
CM993864
CM962472
CM931151
CM930123
CM962473
CM952053
CM055124
CM940266
CM980352
CM993865
CM087537
CM003250
CM930124
CM990363
CM067735
CM983566
CM972956
CM960285
CM970292
CM960286
CM983567
CM941980
CM962474
CM983568
CM003251
CM940267
CM950250
CM983569
CM003252
CM980353
CM983570
CM042689
CM067764
CM024690
TTA‐TAA
TGG‐TAG
CAA‐CGA
CAA‐TAA
GAC‐GGC
AGT‐AAT
ACT‐ATT
ACC‐AAC
TCG‐TTG
TCG‐TAG
TAT‐TGT
TAT‐TAA
TAT‐TAA
TAC‐GAC
TAC‐TGC
TAC‐TGC
GTG‐ATG
GAC‐AAC
CTT‐CCT
TTC‐TCC
CAT‐CGT
CAT‐GAT
TCG‐TTG
AAA‐TAA
CAC‐CGC
CAC‐CTC
CAC‐TAC
ATG‐ATC
ATG‐ACG
CAT‐CCT
ATG‐ATT
GGT‐CGT
GGT‐GAT
GGT‐AGT
CTT‐CCT
TCC‐TTC
TCC‐CCC
GAT‐GTT
ATA‐AAA
GAC‐CAC
GAC‐TAC
GAC‐TAC
TTC‐TGC
GGA‐TGA
ATA‐AGA
GCA‐GAA
GTC‐GAC
GCA‐ACA
CCC‐CTC
TAC‐TGC
TTT‐TCT
GTG‐GAG
CCA‐GCA
Leu867Term
Trp882Term
Gln890Arg
Gln890Term
Asp891Gly
Ser895Asn
Thr896Ile
Thr908Asn
Ser912Leu
Ser912Term
Tyr913Cys
Tyr913Term
Tyr914Term
Tyr917Asp
Tyr917Cys
Tyr919Cys
Val920Met
Asp924Asn
Leu927Pro
Phe932Ser
His939Arg
His939Asp
Ser945Leu
Lys946Term
His949Arg
His949Leu
His949Tyr
Met952Ile
Met952Thr
His954Pro
Met961Ile
Gly970Arg
Gly970Asp
Gly970Ser
Leu973Pro
Ser977Phe
Ser977Pro
Asp979Val
Ile980Lys
Asp985His
Asp985Tyr
Asp993Tyr
Phe994Cys
Gly1003Term
Ile1005Arg
Ala1006Glu
Val1008Asp
Ala1009Thr
Pro1013Leu
Tyr1014Cys
Phe1016Ser
Val1020Glu
Pro1021Ala
2600T>A
2645G>A
2669A>G
2668C>T
2672A>G
2684G>A
2687C>T
2723C>A
2735C>T
2735C>A
2738A>G
2739T>A
2742T>A
2749T>G
2750A>G
2756A>G
2758G>A
2770G>A
2780T>C
2795T>C
2816A>G
2815C>G
2834C>T
2836A>T
2846A>G
2846A>T
2845C>T
2856G>C
2855T>C
2861A>C
2883G>T
2908G>C
2909G>A
2908G>A
2918T>C
2930C>T
2929T>C
2936A>T
2939T>A
2953G>C
2953G>T
2977G>T
2981T>G
3007G>T
3014T>G
3017C>A
3023T>A
3025G>A
3038C>T
3041A>G
3047T>C
3059T>A
3061C>G
L867*
W882*
Q890R
Q890*
D891G
S895N
T896I
T908N
S912L
S912*
Y913C
Y913*
Y914*
Y917D
Y917C
Y919C
V920M
D924N
L927P
F932S
H939R
H939D
S945L
K946*
H949R
H949L
H949Y
M952I
M952T
H954P
M961I
G970R
G970D
G970S
L973P
S977F
S977P
D979V
I980K
D985H
D985Y
D993Y
F994C
G1003*
I1005R
A1006E
V1008D
A1009T
P1013L
Y1014C
F1016S
V1020E
P1021A
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Haworth (1996) CFTR LSDB entry Newsletter:#69
Ferec (1996) CFTR LSDB entry Newsletter:#67
Casals (2000) Hum Reprod 15:1476
Tsui (1992) Hum Mutat 1:197
Kilinc (1998) CFTR LSDB entry Newsletter:#70
Wu (2000) J Formos Med Assoc 99:564
Lazaro (2000) CFTR LSDB entry Pers comm:
Hammerle (2000) Glycoconj J 17:807
Ghanem (1994) Genomics 21:434
Saba (1993) Hum Mol Genet 2:1739
Vidaud (1990) Hum Genet 85:446
Schrijver (2005) J Mol Diagn 7:289
Kammesheidt (2006) Genet Med 8:557
Schwarz (1996) CFTR LSDB entry Newsletter:#69
Hughes (1996) Hum Mutat 8:340
Savov (1994) Hum Mol Genet 3:57
Steffann (1998) Ann Genet 41:213
Alonso (2006) Ann Hum Genet 71:194
Hermans (1994) Hum Mol Genet 3:1199
Ferec (1999) CFTR LSDB entry Pers comm:
Ferec (1996) CFTR LSDB entry Newsletter:#69
Ferec (1993) CFTR LSDB entry Newsletter:#54
Claustres (1993) Hum Mol Genet 2:1209
Haworth (1996) CFTR LSDB entry Newsletter:#69
Ferec (1995) CFTR LSDB entry Newsletter:#65
McGinniss (2005) Hum Genet 118:331
Ghanem (1994) Genomics 21:434
Desgeorges (1997) Hum Genet 100:279
Casals (2000) Hum Reprod 15:1476
Kolesár (2008) Gen Physiol Biophys 27:299
Malone (2000) CFTR LSDB entry Pers comm:
Cuppens (1993) Genomics 18:693
Wagner (1999) Hum Genet 104:511
Seia (2006) CFTR LSDB entry Unpublished:.
Ferec (1998) CFTR LSDB entry Pers comm:
Ferec (1997) CFTR LSDB entry Newsletter:#69
Hughes (1996) Hum Mutat 8:340
Plouvier (1997) Ann Genet 40:185
Bienvenu (1996) Hum Mutat 7:182
Claustres (1998) CFTR LSDB entry Newsletter:#70
Bienvenu (1994) CFTR LSDB entry Newsletter:#63
des Georges (2004) J Cyst Fibros 3:265
Claustres (1998) CFTR LSDB entry Newsletter:#70
Ferec (2000) CFTR LSDB entry Pers comm:
Doerk (1994) Hum Genet 94:533
Ferec (1995) Mol Cell Probes 9:135
Alonso (2006) Ann Hum Genet 71:194
Schrijver (2005) J Mol Diagn 7:289
Onay (1998) Hum Genet 102:224
Casals (2000) Hum Reprod 15:1476
Alper (2004) Hum Mutat 24:353
Girodon (2006) CFTR LSDB entry Unpublished:.
Tzetis (2002) CFTR LSDB entry Pers comm:
Source: LSDB
Source: LSDB
PubMed 10875853
PubMed 1284534
Source: LSDB
PubMed 10925568
Source: LSDB
PubMed 11443282
PubMed 7522211
PubMed 7505693
PubMed 2210768
PubMed 15858154
PubMed 16980811
Source: LSDB
PubMed 8956039
PubMed 7512860
PubMed 9881185
PubMed 17331079
PubMed 7526927
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 7691344
Source: LSDB
Source: LSDB
PubMed 16189704
PubMed 7522211
PubMed 9254864
PubMed 10875853
PubMed 19202204
Source: LSDB
PubMed 7508414
PubMed 10453741
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 8956039
PubMed 9401110
PubMed 8829643
Source: LSDB
Source: LSDB
PubMed 15698946
Source: LSDB
Source: LSDB
PubMed 7525450
PubMed 7541510
PubMed 17331079
PubMed 15858154
PubMed 9521595
PubMed 10875853
PubMed 15365999
Source: LSDB
Source: LSDB
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM960287
CM003253
CM980354
CM043471
CM043472
CM055121
CM078047
CM983571
CM056563
CM087272
CM1212242
CM024691
CM067746
CM043473
CM930125
CM983572
CM067749
CM940268
CM067751
CM962475
CM940269
CM950251
CM960288
CM930126
CM920172
CM980355
CM984227
CM920173
CM920175
CM1212243
CM920174
CM930127
CM952054
CM994788
CM920176
CM950252
CM940270
CM930128
CM970294
CM950253
CM003254
CM940271
CM983573
CM970295
CM920177
CM057573
CM930129
CM034792
CM962476
CM983574
CM950254
CM920178
HM030019
ATT‐ACT
ATG‐AGG
ATG‐ATT
TAT‐AAT
CAA‐TAA
ACC‐AAC
ACC‐ATC
CAA‐TAA
CTG‐CGG
TCT‐TAT
GAA‐TAA
GGC‐CGC
AGG‐GGG
ATT‐GTT
TTC‐GTC
ACT‐ATT
CAT‐CGT
CAT‐GAT
CAT‐CTT
ACA‐GCA
TTA‐TGA
AAA‐ACA
GGA‐AGA
GGA‐CGA
TGG‐TGA
CTT‐CGT
CTT‐TTT
CTT‐CCT
CGT‐TGT
CGT‐GGT
CGT‐CAT
CGT‐CTT
CGT‐AGT
GCC‐GAC
GCC‐ACC
GCC‐GTC
GGA‐AGA
CGG‐CAG
CGG‐CCG
CGG‐TGG
CAG‐CAT
CAG‐CCG
CCT‐CTT
TTT‐TTA
CTG‐CCG
CAC‐CCC
CAT‐CGT
ACT‐GCT
ACT‐ATT
AAC‐GAC
TGG‐CGG
TGG‐TAG
TAC‐TGC
Ile1027Thr
Met1028Arg
Met1028Ile
Tyr1032Asn
Gln1035Term
Thr1036Asn
Thr1036Ile
Gln1042Term
Leu1043Arg
Ser1045Tyr
Glu1046Term
Gly1047Arg
Arg1048Gly
Ile1051Val
Phe1052Val
Thr1053Ile
His1054Arg
His1054Asp
His1054Leu
Thr1057Ala
Leu1059Term
Lys1060Thr
Gly1061Arg
Gly1061Arg
Trp1063Term
Leu1065Arg
Leu1065Phe
Leu1065Pro
Arg1066Cys
Arg1066Gly
Arg1066His
Arg1066Leu
Arg1066Ser
Ala1067Asp
Ala1067Thr
Ala1067Val
Gly1069Arg
Arg1070Gln
Arg1070Pro
Arg1070Trp
Gln1071His
Gln1071Pro
Pro1072Leu
Phe1074Leu
Leu1077Pro
His1079Pro
His1085Arg
Thr1086Ala
Thr1086Ile
Asn1088Asp
Trp1089Arg
Trp1089Term
Tyr1092Cys
3080T>C
3083T>G
3084G>T
3094T>A
3103C>T
3107C>A
3107C>T
3124C>T
3128T>G
3134C>A
3136G>T
3139G>C
3142A>G
3151A>G
3154T>G
3158C>T
3161A>G
3160C>G
3161A>T
3169A>G
3176T>G
3179A>C
3181G>A
3181G>C
3189G>A
3194T>G
3193C>T
3194T>C
3196C>T
3196C>G
3197G>A
3197G>T
3196C>A
3200C>A
3199G>A
3200C>T
3205G>A
3209G>A
3209G>C
3208C>T
3213G>T
3212A>C
3215C>T
3222T>A
3230T>C
3236A>C
3254A>G
3256A>G
3257C>T
3262A>G
3265T>C
3266G>A
3275A>G
I1027T
M1028R
M1028I
Y1032N
Q1035*
T1036N
T1036I
Q1042*
L1043R
S1045Y
E1046*
G1047R
R1048G
I1051V
F1052V
T1053I
H1054R
H1054D
H1054L
T1057A
L1059*
K1060T
G1061R
G1061R
W1063*
L1065R
L1065F
L1065P
R1066C
R1066G
R1066H
R1066L
R1066S
A1067D
A1067T
A1067V
G1069R
R1070Q
R1070P
R1070W
Q1071H
Q1071P
P1072L
F1074L
L1077P
H1079P
H1085R
T1086A
T1086I
N1088D
W1089R
W1089*
Y1092C
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Hughes (1996) Hum Mutat 8:340
Lazaro (2000) CFTR LSDB entry Pers comm:
Onay (1998) Hum Genet 102:224
Seia (2004) CFTR LSDB entry Pers comm:
Bogdanova (2004) CFTR LSDB entry Pers comm:
McGinniss (2005) Hum Genet 118:331
Alibakhshi (2008) J Cyst Fibros 7:102
Ferec (1998) CFTR LSDB entry Pers comm:
Messaoud (2005) Ann Biol Clin (Paris) 63:627
Rana‐Díez (2008) J Cyst Fibros 7:520
Křenková (2013) J Cyst Fibros 12:532
Ferec (2002) CFTR LSDB entry Pers comm:
Picci (2006) CFTR LSDB entry Unpublished:.
Pasquet (2004) CFTR LSDB entry Pers comm:
Mercier (1993) Genomics 16:296
Bienvenu (1998) CFTR LSDB entry Pers comm:
Picci (2006) CFTR LSDB entry Unpublished:.
Mercier (1994) J Med Genet 31:731
Pacheco (2006) CFTR LSDB entry Unpublished:.
Dal'Maso (2013) J Bras Pneumol 39:181
Doerk (1994) Hum Genet 94:533
Casals (1995) Hum Genet 95:205
Bienvenu (1996) Hum Mutat 7:376
Mercier (1993) Genomics 16:296
Fanen (1992) Genomics 13:770
Casals (1998) Hum Mutat S1:S99
Tzetis (1998) CFTR LSDB entry Newsletter:#70
Tsui (1992) Hum Mutat 1:197
Fanen (1992) Genomics 13:770
Křenková (2013) J Cyst Fibros 12:532
Ferec (1992) Nat Genet 1:188
Mercier (1993) Genomics 16:296
Schrijver (2005) J Mol Diagn 7:375
Girodon (1999) CFTR LSDB entry Pers comm:
Ferec (1992) Nat Genet 1:188
Jezequel (1995) Clin Chem 41:833
Savov (1994) Hum Mol Genet 3:57
Mercier (1993) Genomics 16:296
Shrimpton (1997) Hum Mutat 10:436
Jezequel (1995) Clin Chem 41:833
Claustres (2000) CFTR LSDB entry Pers comm:
Ghanem (1994) Genomics 21:434
Bombieri (1998) CFTR LSDB entry Newsletter:#70
Casals (1997) Hum Genet 101:365
Tsui (1992) Hum Mutat 1:197
Wang (2005) CFTR LSDB entry Unpublished:.
Mercier (1993) Genomics 16:296
Girodon (2003) CFTR LSDB entry Pers comm:
Bienvenu (1996) CFTR LSDB entry Newsletter:#67
Strandvik (2001) Genet Test 5:235
Zielenski (1995) Hum Mutat 5:43
Tsui (1992) Hum Mutat 1:197
Trujillo‐Tiebas (2004) Hum Genet 114:403
PubMed 8956039
Source: LSDB
PubMed 9521595
Source: LSDB
Source: LSDB
PubMed 16189704
PubMed 17662673
Source: LSDB
PubMed 16330381
PubMed 18676185
PubMed 23276700
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 7683628
Source: LSDB
Source: LSDB
PubMed 7529319
Source: LSDB
PubMed 23670503
PubMed 7525450
PubMed 7532150
PubMed 8723695
PubMed 7683628
PubMed 1379210
PubMed 9452054
Source: LSDB
PubMed 1284534
PubMed 1379210
PubMed 23276700
PubMed 1284639
PubMed 7683628
PubMed 16049310
Source: LSDB
PubMed 1284639
PubMed 7539342
PubMed 7512860
PubMed 7683628
PubMed 9401006
PubMed 7539342
Source: LSDB
PubMed 7522211
Source: LSDB
PubMed 9439669
PubMed 1284534
Source: LSDB
PubMed 7683628
Source: LSDB
Source: LSDB
PubMed 11788090
PubMed 7537150
PubMed 1284534
Source: Online submission
www.ngpd.it
Elenco mutazioni NGPD
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CM972958
CM920179
CM941981
CM993438
CM983575
CM056307
CM000669
CM074737
CM940272
CM962477
CM055127
CM940273
CM930131
CM930130
TAC‐CAC
TAC‐TAA
TAC‐TAG
CTG‐CCG
CTG‐CGG
TGG‐CGG
TGG‐TGT
TGG‐TTG
TGG‐TAG
TGG‐TGA
TTC‐TTA
CAA‐CCA
ATG‐AGG
ATG‐AAG
Tyr1092His
Tyr1092Term
Tyr1092Term
Leu1093Pro
Leu1096Arg
Trp1098Arg
Trp1098Cys
Trp1098Leu
Trp1098Term
Trp1098Term
Phe1099Leu
Gln1100Pro
Met1101Arg
Met1101Lys
3274T>C
3276C>A
3276C>G
3278T>C
3287T>G
3292T>C
3294G>T
3293G>T
3293G>A
3294G>A
3297C>A
3299A>C
3302T>G
3302T>A
Y1092H
Y1092*
Y1092*
L1093P
L1096R
W1098R
W1098C
W1098L
W1098*
W1098*
F1099L
Q1100P
M1101R
M1101K
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CM043474
CM1212244
CM950255
CM031656
CM136673
CM993866
CM983576
CM960289
CM941982
CM962478
CM024693
CM993867
CM003255
CM952055
CM067740
CM931152
CM940274
CM983577
CM962479
CM003256
CM983578
CM003257
CM950256
CM920180
CM993868
CM931153
CM011285
CM014892
CM021555
CM910074
CM034793
CM931154
CM941984
CM001653
CM941985
CM962480
CM941986
CM024694
AGA‐TGA
GAA‐AAA
GAA‐TAA
ATG‐AGG
TTT‐CTT
TCC‐TGC
TCC‐TTC
GGA‐CGA
GGA‐GAA
AGA‐TGA
GTT‐GGT
ATT‐GTT
GCC‐ACC
ATG‐AGG
ATG‐ACG
ATG‐GTG
ATC‐GTC
ATG‐AAG
CAG‐TAG
TGG‐TGA
GTA‐ATA
AAC‐AAA
GAT‐CAT
CGA‐TGA
TCT‐TTT
TCT‐CCT
AGC‐AGG
CGA‐CAA
CGA‐CTA
CGA‐TGA
TTC‐TGC
GAC‐GGC
AAG‐AGG
AAG‐TAG
TAC‐TAG
CAA‐TAA
GTT‐GAT
AAT‐ACT
Arg1102Term
Glu1104Lys
Glu1104Term
Met1105Arg
Phe1107Leu
Ser1118Cys
Ser1118Phe
Gly1123Arg
Gly1127Glu
Arg1128Term
Val1129Gly
Ile1131Val
Ala1136Thr
Met1137Arg
Met1137Thr
Met1137Val
Ile1139Val
Met1140Lys
Gln1144Term
Trp1145Term
Val1147Ile
Asn1148Lys
Asp1152His
Arg1158Term
Ser1159Phe
Ser1159Pro
Ser1161Arg
Arg1162Gln
Arg1162Leu
Arg1162Term
Phe1166Cys
Asp1168Gly
Lys1177Arg
Lys1177Term
Tyr1182Term
Gln1186Term
Val1190Asp
Asn1195Thr
3304A>T
3310G>A
3310G>T
3314T>G
3319T>C
3353C>G
3353C>T
3367G>C
3380G>A
3382A>T
3386T>G
3391A>G
3406G>A
3410T>G
3410T>C
3409A>G
3415A>G
3419T>A
3430C>T
3435G>A
3439G>A
3444C>A
3454G>C
3472C>T
3476C>T
3475T>C
3483C>G
3485G>A
3485G>T
3484C>T
3497T>G
3503A>G
3530A>G
3529A>T
3546C>G
3556C>T
3569T>A
3584A>C
R1102*
E1104K
E1104*
M1105R
F1107L
S1118C
S1118F
G1123R
G1127E
R1128*
V1129G
I1131V
A1136T
M1137R
M1137T
M1137V
I1139V
M1140K
Q1144*
W1145*
V1147I
N1148K
D1152H
R1158*
S1159F
S1159P
S1161R
R1162Q
R1162L
R1162*
F1166C
D1168G
K1177R
K1177*
Y1182*
Q1186*
V1190D
N1195T
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Trujillano (2013) J Med Genet 50:455
Tsui (1992) Hum Mutat 1:197
Schrijver (2005) J Mol Diagn 7:375
Yee (1999) Hum Mutat 15:208
Claustres (1998) CFTR LSDB entry Pers comm:
Schrijver (2005) J Mol Diagn 7:375
Orozco (2000) Hum Genet 106:360
Brakensiek (2007) CFTR LSDB entry Unpublished:.
Chillon (1994) Hum Genet 93:447
Newsletter:#69
McGinniss (2005) Hum Genet 118:331
Chillon (1994) Hum Genet 93:447
Mercier (1993) Genomics 16:296
Zielenski (1993) Am J Hum Genet 52:609
Sobczynska‐Tomaszewska (2013) Eur J Hum Genet 21:391
Křenková (2013) J Cyst Fibros 12:532
Zielenski (1995) Hum Mutat 5:43
Scotet (2003) Hum Mutat 22:105
Prach (2013) J Mol Diagn epub:epub
Zielenski (1999) CFTR LSDB entry Pers comm:
Ferec (1998) CFTR LSDB entry Pers comm:
Hughes (1996) Hum Mutat 8:340
Bienvenu (1994) CFTR LSDB entry Newsletter:#63
Ghanem (1996) CFTR LSDB entry Newsletter:#68
Claustres (2002) CFTR LSDB entry Pers comm:
Giorgi (1999) CFTR LSDB entry Pers comm:
Ferec (2000) CFTR LSDB entry Pers comm:
Hirtz (2004) Gastroenterology 127:1085
Picci (2006) CFTR LSDB entry Unpublished:.
Zielenski (1993) CFTR LSDB entry Newsletter:#59
Teng (1994) Hum Mol Genet 3:2249
Ferec (1998) CFTR LSDB entry Pers comm:
Schwarz (1996) CFTR LSDB entry Newsletter:#67
Seia (2000) CFTR LSDB entry Pers comm:
Kilinc (2002) Am J Med Genet 113:250
Casals (2000) CFTR LSDB entry Pers comm:
Chillon (1995) N Engl J Med 332:1475
Ronchetto (1992) Genomics 12:417
Hirtz (2004) Gastroenterology 127:1085
Macek (1993) CFTR LSDB entry Newsletter:#55
Le Maréchal (2001) Hum Genet 108:290
Strandvik (2001) Genet Test 5:235
Groman (2002) N Engl J Med 347:401
Gasparini (1991) Genomics 10:193
Messaoud (2005) Ann Biol Clin (Paris) 63:627
Macek (1993) CFTR LSDB entry Newsletter:#58
Baralle (1994) CFTR LSDB entry Newsletter:#61
Banjar (1999) Ann Trop Paediatr 19:69
Wallace (1994) CFTR LSDB entry Newsletter:#64
Haworth (1996) CFTR LSDB entry Newsletter:#69
Glavac (1994) CFTR LSDB entry Newsletter:#64
Savov (2002) CFTR LSDB entry Pers comm:
PubMed 23687349
PubMed 1284534
PubMed 16049310
PubMed 10649505
Source: LSDB
PubMed 16049310
PubMed 10798368
Source: LSDB
PubMed 7513293
Source: LSDB
PubMed 16189704
PubMed 7513293
PubMed 7683628
PubMed 7680525
PubMed 22892530
PubMed 23276700
PubMed 7537150
PubMed 12815607
PubMed 23810505
Source: LSDB
Source: LSDB
PubMed 8956039
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 15480987
Source: LSDB
Source: LSDB
PubMed 7881429
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 12439892
Source: LSDB
PubMed 7739684
PubMed 1371265
PubMed 15480987
Source: LSDB
PubMed 11379874
PubMed 11788090
PubMed 12167682
PubMed 2045102
PubMed 16330381
Source: LSDB
Source: LSDB
PubMed 10605524
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
www.ngpd.it
Elenco mutazioni NGPD
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CM930132
CM920181
CM920182
CM920183
CM067771
CM141631
CM962481
CM931155
CM043475
CM931156
CM032556
CM972959
CM972960
CM920184
CM930133
CM003259
CM931157
CM930134
TCA‐TGA
AAA‐GAA
ATC‐GTC
TGG‐TAG
TGG‐TGA
TCA‐TAA
TCA‐TGA
ATG‐ATA
ATG‐AAG
GTC‐ATC
ATA‐AGA
TTA‐TCA
ATT‐ACT
ATA‐GTA
AGT‐AGG
GGC‐AGC
CAG‐CGG
CAG‐TAG
Ser1196Term
Lys1200Glu
Ile1203Val
Trp1204Term
Trp1204Term
Ser1206Term
Ser1206Term
Met1210Ile
Met1210Lys
Val1212Ile
Ile1226Arg
Leu1227Ser
Ile1230Thr
Ile1234Val
Ser1235Arg
Gly1237Ser
Gln1238Arg
Gln1238Term
3587C>G
3598A>G
3607A>G
3611G>A
3612G>A
3617C>A
3617C>G
3630G>A
3629T>A
3634G>A
3677T>G
3680T>C
3689T>C
3700A>G
3705T>G
3709G>A
3713A>G
3712C>T
S1196*
K1200E
I1203V
W1204*
W1204*
S1206*
S1206*
M1210I
M1210K
V1212I
I1226R
L1227S
I1230T
I1234V
S1235R
G1237S
Q1238R
Q1238*
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CM993869
CM057580
CM141632
CM910075
CM940275
CM941987
CM962482
CM057584
CM1210538
CM940277
CM940276
CM920185
CM962483
CM960290
CM980356
CM920187
CM920186
CM983579
CM024695
CM067743
CM952056
CM920188
CM057575
CM993870
CM970297
CM930135
CM962484
CM962485
CM900061
CM940278
CM920189
GTG‐GGG
GGA‐AGA
GGA‐CGA
GGA‐GAA
GGA‐GTA
ACT‐ATT
GGA‐AGA
GGA‐CGA
GGA‐TGA
GGG‐AGG
GGG‐GAG
AGT‐AAT
ACT‐CCT
TTA‐TAA
TCA‐TTA
TCA‐CCA
TCA‐TAA
TTT‐TTG
CTA‐CGA
CAG‐CGG
ATC‐AAC
GAT‐AAT
GAT‐TAT
TGG‐TGA
CAG‐TAG
TGG‐CGG
TGG‐TGT
TGG‐GGG
TGG‐TGA
AGG‐AAG
AGG‐ATG
Val1240Gly
Gly1244Arg
Gly1244Arg
Gly1244Glu
Gly1244Val
Thr1246Ile
Gly1247Arg
Gly1247Arg
Gly1247Term
Gly1249Arg
Gly1249Glu
Ser1251Asn
Thr1252Pro
Leu1254Term
Ser1255Leu
Ser1255Pro
Ser1255Term
Phe1257Leu
Leu1260Arg
Gln1268Arg
Ile1269Asn
Asp1270Asn
Asp1270Tyr
Trp1274Term
Gln1281Term
Trp1282Arg
Trp1282Cys
Trp1282Gly
Trp1282Term
Arg1283Lys
Arg1283Met
3719T>G
3730G>A
3730G>C
3731G>A
3731G>T
3737C>T
3739G>A
3739G>C
3739G>T
3745G>A
3746G>A
3752G>A
3754A>C
3761T>A
3764C>T
3763T>C
3764C>A
3771T>G
3779T>G
3803A>G
3806T>A
3808G>A
3808G>T
3822G>A
3841C>T
3844T>C
3846G>T
3844T>G
3846G>A
3848G>A
3848G>T
V1240G
G1244R
G1244R
G1244E
G1244V
T1246I
G1247R
G1247R
G1247*
G1249R
G1249E
S1251N
T1252P
L1254*
S1255L
S1255P
S1255*
F1257L
L1260R
Q1268R
I1269N
D1270N
D1270Y
W1274*
Q1281*
W1282R
W1282C
W1282G
W1282*
R1283K
R1283M
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
CFTR
CFTR
CM132378
CM930136
TTT‐TGT
TTT‐TCT
Phe1286Cys
Phe1286Ser
3857T>G
3857T>C
F1286C
F1286S
Cystic fibrosis
Cystic fibrosis
Ivaschenko (1993) Hum Genet 91:63
Fanen (1992) Genomics 13:770
Cutting (1992) Am J Hum Genet 50:1185
Tsui (1992) Hum Mutat 1:197
Schrijver (2006) CFTR LSDB entry Unpublished:.
Ziętkiewicz (2014) PLoS One 9:e89094
Ferec (1996) CFTR LSDB entry Newsletter:#69
Nukiwa (1993) CFTR LSDB entry Newsletter:#55
Seia (2004) CFTR LSDB entry Pers comm:
Macek (1993) CFTR LSDB entry Newsletter:#55
Korytina (2003) Mol Biol (Mosk) 37:61
Jezequel (2000) Mol Hum Reprod 6:1063
Claustres (1997) CFTR LSDB entry Newsletter:#69
Claustres (1992) Hum Mutat 1:310
Cuppens (1993) Genomics 18:693
Casals (2000) CFTR LSDB entry Pers comm:
Ferec (1993) CFTR LSDB entry Newsletter:#58
Audrezet (1993) Hum Mol Genet 2:51
Sobczynska‐Tomaszewska (2013) Eur J Hum Genet 21:391
Lucarelli (2005) CFTR LSDB entry Unpublished:.
Ziętkiewicz (2014) PLoS One 9:e89094
Devoto (1991) Am J Hum Genet 48:1127
Savov (1994) Hum Mol Genet 3:513
Ferec (1994) CFTR LSDB entry Newsletter:#64
Casals (1996) CFTR LSDB entry Newsletter:#69
Lucarelli (2005) CFTR LSDB entry Unpublished:.
Eminoglu (2012) Indian J Pediatr epub:epub
Dijkstra (1994) Hum Mutat 4:161
Greil (1994) Hum Hered 44:238
Kaelin (1992) Hum Mutat 1:204
Schrijver (2005) J Mol Diagn 7:375
Hughes (1996) Hum Mutat 8:340
Cartault (1998) Clin Genet 54:437
Lissens (1992) Hum Mol Genet 1:441
Tsui (1992) Hum Mutat 1:197
Ferec (1998) CFTR LSDB entry Pers comm:
Seia (2002) CFTR LSDB entry Pers comm:
Picci (2006) CFTR LSDB entry Unpublished:.
McDowell (1995) CFTR LSDB entry Newsletter:#66
Tsui (1992) Hum Mutat 1:197
Wang (2005) CFTR LSDB entry Unpublished:.
Zielenski (1999) CFTR LSDB entry Pers comm:
Casals (1997) Hum Genet 101:365
Ivaschenko (1993) Hum Genet 91:63
Ferec (1996) CFTR LSDB entry Newsletter:#69
Faucz (2007) Clin Genet 72:218
Kerem (1990) Proc Natl Acad Sci U S A 87:8447
Chevalier‐Porst (1994) J Med Genet 31:541
Cheadle (1992) Hum Mol Genet 1:123
Sobczynska‐Tomaszewska (2013) Eur J Hum Genet 21:391
Dorval (1993) Hum Genet 91:254
PubMed 7681034
PubMed 1379210
PubMed 1376017
PubMed 1284534
Source: LSDB
PubMed 24586523
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 12624947
PubMed 11101688
Source: LSDB
PubMed 1284537
PubMed 7508414
Source: LSDB
Source: LSDB
PubMed 7683952
PubMed 22892530
Source: LSDB
PubMed 24586523
PubMed 1709778
PubMed 7516777
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 22798282
PubMed 7526929
PubMed 7520022
PubMed 1284535
PubMed 16049310
PubMed 8956039
PubMed 9842999
PubMed 1284530
PubMed 1284534
Source: LSDB
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 1284534
Source: LSDB
Source: LSDB
PubMed 9439669
PubMed 7681034
Source: LSDB
PubMed 17718859
PubMed 2236053
PubMed 7525963
PubMed 1284468
PubMed 22892530
PubMed 8097485
www.ngpd.it
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
Elenco mutazioni NGPD
CM055928
CM067732
CM940279
CM920190
CM003260
CM972961
CM992307
CM962486
CM111172
CM920191
CM952057
CM910076
CM972962
CM993871
CM972963
CM920192
CM962487
CM930137
CM900062
CM983580
CM941988
CM043477
CM090071
CM067762
CM972964
CM920193
CM993872
CM067760
CM931158
CM993873
CM1212245
CM993874
CM920194
CM055923
CM087538
CM057574
CM067737
CM024696
CM983581
CM940280
CM057572
CM024697
CM983582
CM043478
CM931159
CM960291
CM043479
CM972965
CM993875
CM043480
CM962488
CM993876
CM993877
GGA‐AGA
CCA‐ACA
CAG‐CGG
CAG‐CAC
CAG‐TAG
GTA‐ATA
ACA‐ATA
TTT‐CTT
AAA‐TAA
AAC‐CAC
AAC‐ATC
AAC‐AAG
GAT‐GAA
TAT‐TAA
GAA‐TAA
TGG‐TAG
CAA‐AAA
CAA‐TAA
TGG‐TAG
GTT‐GCT
GAG‐CAG
CTC‐CCC
GAA‐CAA
CTT‐TTT
CTT‐CCT
GGC‐GAC
GGC‐AGC
CAG‐GAG
CAG‐CAC
AGA‐AGT
ATC‐AAC
ATC‐ACC
GAA‐TAA
CCC‐CTC
CAT‐AAT
CAT‐CCT
TAC‐CAC
TAC‐TAA
CAA‐TAA
GTA‐GAA
ATT‐AGT
GAA‐GCA
GAA‐TAA
ATG‐ACG
GAA‐GTA
CAA‐TAA
GAG‐TAG
CGG‐TGG
TCC‐CCC
CGG‐TGG
GAC‐AAC
CGG‐TGG
CAA‐TAA
Gly1287Arg
Pro1290Thr
Gln1291Arg
Gln1291His
Gln1291Term
Val1293Ile
Thr1299Ile
Phe1300Leu
Lys1302Term
Asn1303His
Asn1303Ile
Asn1303Lys
Asp1305Glu
Tyr1307Term
Glu1308Term
Trp1310Term
Gln1313Lys
Gln1313Term
Trp1316Term
Val1318Ala
Glu1321Gln
Leu1324Pro
Glu1329Gln
Leu1335Phe
Leu1335Pro
Gly1349Asp
Gly1349Ser
Gln1352Glu
Gln1352His
Arg1358Ser
Ile1366Asn
Ile1366Thr
Glu1371Term
Pro1372Leu
His1375Asn
His1375Pro
Tyr1381His
Tyr1381Term
Gln1382Term
Val1397Glu
Ile1398Ser
Glu1401Ala
Glu1401Term
Met1407Thr
Glu1409Val
Gln1412Term
Glu1418Term
Arg1422Trp
Ser1426Pro
Arg1438Trp
Asp1445Asn
Arg1453Trp
Gln1476Term
3859G>A
3868C>A
3872A>G
3873G>C
3871C>T
3877G>A
3896C>T
3898T>C
3904A>T
3907A>C
3908A>T
3909C>G
3915T>A
3921T>A
3922G>T
3929G>A
3937C>A
3937C>T
3947G>A
3953T>C
3961G>C
3971T>C
3985G>C
4003C>T
4004T>C
4046G>A
4045G>A
4054C>G
4056G>C
4074A>T
4097T>A
4097T>C
4111G>T
4115C>T
4123C>A
4124A>C
4141T>C
4143C>A
4144C>T
4190T>A
4193T>G
4202A>C
4201G>T
4220T>C
4226A>T
4234C>T
4252G>T
4264C>T
4276T>C
4312C>T
4333G>A
4357C>T
4426C>T
G1287R
P1290T
Q1291R
Q1291H
Q1291*
V1293I
T1299I
F1300L
K1302*
N1303H
N1303I
N1303K
D1305E
Y1307*
E1308*
W1310*
Q1313K
Q1313*
W1316*
V1318A
E1321Q
L1324P
E1329Q
L1335F
L1335P
G1349D
G1349S
Q1352E
Q1352H
R1358S
I1366N
I1366T
E1371*
P1372L
H1375N
H1375P
Y1381H
Y1381*
Q1382*
V1397E
I1398S
E1401A
E1401*
M1407T
E1409V
Q1412*
E1418*
R1422W
S1426P
R1438W
D1445N
R1453W
Q1476*
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis
Chou (2005) J Mol Diagn 7:111
Picci (2006) CFTR LSDB entry Unpublished:.
Doerk (1994) Hum Genet 94:533
Jones (1992) Hum Mol Genet 1:11
Feldmann (2001) Hum Mutat 17:356
Ferec (1997) CFTR LSDB entry Newsletter:#69
Liechti (1999) Eur J Hum Genet 7:590
Poncin (1996) CFTR LSDB entry Newsletter:#69
Bonyadi (2011) Genet Test Mol Biomarkers 15:89
Claustres (1992) Hum Mutat 1:310
Lissens (1995) CFTR LSDB entry Newsletter:#66
Osborne (1991) Am J Hum Genet 48:608
Claustres (1997) CFTR LSDB entry Newsletter:#69
Zielenski (1999) CFTR LSDB entry Pers comm:
Alonso (2006) Ann Hum Genet 71:194
Tsui (1992) Hum Mutat 1:197
Malone (1996) CFTR LSDB entry Newsletter:#68
Audrezet (1993) Hum Mol Genet 2:51
Cutting (1990) N Engl J Med 323:1685
Ferec (1998) CFTR LSDB entry Pers comm:
Ferec (1994) CFTR LSDB entry Newsletter:#64
Bienvenu (2005) Hum Biol 77:705
Sharma (2009) Ann Hum Genet 73:26
Picci (2006) CFTR LSDB entry Unpublished:.
Zielenski (1997) CFTR LSDB entry Newsletter:#70
Tsui (1992) Hum Mutat 1:197
Yoshimura (1999) CFTR LSDB entry Pers comm:
Picci (2006) CFTR LSDB entry Unpublished:.
Lee (2005) Dig Dis Sci 50:1852
Ferec (1999) CFTR LSDB entry Pers comm:
Křenková (2013) J Cyst Fibros 12:532
Ferec (1999) CFTR LSDB entry Pers comm:
Cutting (1992) Am J Hum Genet 50:1185
Schrijver (2005) J Mol Diagn 7:289
Kolesár (2008) Gen Physiol Biophys 27:299
Narzi (2005) CFTR LSDB entry Unpublished:.
Sharma (2009) Ann Hum Genet 73:26
Casals (2002) CFTR LSDB entry Pers comm:
Claustres (1998) CFTR LSDB entry Newsletter:#70
Petreska (1994) Hum Mol Genet 3:999
Wang (2005) CFTR LSDB entry Unpublished:.
Valaskova (2002) CFTR LSDB entry Pers comm:
Strandvik (2001) Genet Test 5:235
Girodon (2004) CFTR LSDB entry Pers comm:
Claustres (1993) CFTR LSDB entry Newsletter:#55
Hughes (1996) Hum Mutat 8:340
Girodon (2004) CFTR LSDB entry Pers comm:
Claustres (1997) CFTR LSDB entry Newsletter:#70
Ferec (1999) CFTR LSDB entry Pers comm:
Schrijver (2005) J Mol Diagn 7:289
Schrijver (2005) J Mol Diagn 7:289
Yoshimura (1999) CFTR LSDB entry Pers comm:
Claustres (1999) CFTR LSDB entry Pers comm:
PubMed 15681482
Source: LSDB
PubMed 7525450
PubMed 1284466
PubMed 11295849
Source: LSDB
PubMed 10439967
Source: LSDB
PubMed 21198395
PubMed 1284537
Source: LSDB
PubMed 1998343
Source: LSDB
Source: LSDB
PubMed 17331079
PubMed 1284534
Source: LSDB
PubMed 7683952
PubMed 2233965
Source: LSDB
Source: LSDB
PubMed 16596947
PubMed 18782298
Source: LSDB
Source: LSDB
PubMed 1284534
Source: LSDB
Source: LSDB
PubMed 16187186
Source: LSDB
PubMed 23276700
Source: LSDB
PubMed 1376017
PubMed 15858154
PubMed 19202204
Source: LSDB
PubMed 18782298
Source: LSDB
Source: LSDB
PubMed 7524913
Source: LSDB
Source: LSDB
PubMed 11788090
Source: LSDB
Source: LSDB
PubMed 8956039
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 15858154
PubMed 15858154
Source: LSDB
Source: LSDB
www.ngpd.it
Elenco mutazioni NGPD
CFTR
CFTR
CM067753
CM031947
CTT‐CCT
TAG‐TGG
Leu1480Pro
Term1481Trp
4439T>C
4442A>G
L1480P
*1481W
CFTR
CM146100
TGT‐TAT
Cys592Tyr
1775G>A
CFTR
CM1314598
CAG‐CAC
Gln237His
CFTR
CM129624
TTT‐GTT
CFTR
CM088478
CFTR
Picci (2006) CFTR LSDB entry Unpublished:.
Bienvenu (2003) Clin Genet 64:266
Source: LSDB
PubMed 12919146
C592Y
Cystic fibrosis
Cystic fibrosis
Cystic fibrosis related disorder
Ramos (2014) Clin Genet 86:91
PubMed 23837941
711G>C
Q237H
Cystic fibrosis, atypical
Michl (2013) Klin Padiatr 225:288
PubMed 24022636
Phe319Val
955T>G
F319V
Cystic fibrosis, atypical
Poulou (2012) J Cyst Fibros 11:344
PubMed 22326559
ATC‐AGC
Ile752Ser
2255T>G
I752S
Cystic fibrosis, atypical
Paranjape (2008) Clin Rev Allergy Immunol 35:116
PubMed 18493878
CM980357
TCA‐TGA
Ser1455Term
4364C>G
S1455*
Elevated sweat chloride concentration
Mickle (1998) Hum Mol Genet 7:729
PubMed 9499426
CFTR
CM043466
CTG‐CAG
Leu548Gln
1643T>A
L548Q
Yamamoto (2006) Prenat Diagn 26:6
PubMed 16378323
CFTR
CM990360
TAT‐TGT
Tyr301Cys
902A>G
Y301C
Castellani (1999) Am J Hum Genet 64:303
PubMed 9915972
CFTR
CM990361
GAA‐GGA
Glu527Gly
1580A>G
E527G
Puget (1999) Am J Hum Genet 64:303
PubMed 9915972
CFTR
CM001652
TTG‐TCG
Leu967Ser
2900T>C
L967S
Boyne (2000) J Med Genet 37:543
PubMed 10970190
CFTR
CM024660
GAC‐AAC
Asp110Asn
328G>A
D110N
Seia (2002) CFTR LSDB entry Pers comm:
Source: LSDB
CFTR
CM024670
GCC‐GTC
Ala309Val
926C>T
A309V
Ferec (2002) CFTR LSDB entry Pers comm:
Source: LSDB
CFTR
CM024692
TAC‐TGC
Tyr1073Cys
3218A>G
Y1073C
CFTR
CM043470
GCT‐GAT
Ala1025Asp
3074C>A
CFTR
CM129621
CCA‐ACA
Pro936Thr
CFTR
CFTR
CM140666
CM129620
TGC‐TAC
CAA‐CAC
CFTR
CM024682
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CFTR
CM024698
CM074729
CM931139
CM931145
CM053173
CM108945
CM024675
CM043468
CM034790
CM053174
CM136421
CM087308
CM066544
CM087309
CM066547
CM066548
CM066545
CM133354
CM066549
Seia (2002) CFTR LSDB entry Pers comm:
Source: LSDB
A1025D
Foetal hyperechogenic bowel
Hypertrypsinaemia, low sweat chloride
Hypertrypsinaemia, low sweat chloride
Hypertrypsinaemia, low sweat chloride
Hypertrypsinaemia, neonatal
Hypertrypsinaemia, neonatal
Hypertrypsinaemia, neonatal
Hypochloraemic alkalosis
Schrijver (2004) CFTR LSDB entry Pers comm:
Source: LSDB
2806C>A
P936T
Inadequate weight gain
Poulou (2012) J Cyst Fibros 11:344
PubMed 22326559
Cys524Tyr
Gln1209His
1571G>A
3627A>C
C524Y
Q1209H
Puzik (2014) BMC Pediatr 14:13
Poulou (2012) J Cyst Fibros 11:344
PubMed 24433235
PubMed 22326559
GAC‐CAC
Asp651His
1951G>C
D651H
Mittre (2002) CFTR LSDB entry Pers comm:
Source: LSDB
TCC‐TTC
ATA‐ATG
CGC‐TGC
CTA‐CGA
ATG‐GTG
CCT‐CGT
ATT‐GTT
TCC‐TTC
CCC‐CAC
GCC‐CCC
GAT‐GGT
CTG‐CCG
GGA‐AGA
ATG‐ACG
TCT‐TGT
TTT‐TAT
AAA‐GAA
CAC‐TAC
TTT‐TTG
Ser1426Phe
Ile980Met
Arg31Cys
Leu327Arg
Met348Val
Pro439Arg
Ile497Val
Ser737Phe
Pro1013His
Ala1087Pro
Asp1312Gly
Leu188Pro
Gly194Arg
Met284Thr
Ser573Cys
Phe575Tyr
Lys598Glu
His667Tyr
Phe834Leu
4277C>T
2940A>G
91C>T
980T>G
1042A>G
1316C>G
1489A>G
2210C>T
3038C>A
3259G>C
3935A>G
563T>C
580G>A
851T>C
1718C>G
1724T>A
1792A>G
1999C>T
2502T>G
S1426F
I980M
R31C
L327R
M348V
P439R
I497V
S737F
P1013H
A1087P
D1312G
L188P
G194R
M284T
S573C
F575Y
K598E
H667Y
F834L
Meconium ileus, lethal
Metabolic alkalosis
Obstructive azoospermia
Obstructive azoospermia
Oligospermia
Pancreatitis
Pancreatitis
Pancreatitis
Pancreatitis
Pancreatitis
Pancreatitis
Pancreatitis
Pancreatitis
Pancreatitis
Pancreatitis, chronic
Pancreatitis, chronic
Pancreatitis, chronic
Pancreatitis, chronic
Pancreatitis, chronic
Pancreatitis, chronic
Pancreatitis, chronic
Pancreatitis, chronic
Casals (2002) CFTR LSDB entry Pers comm:
Pasquet (2007) CFTR LSDB entry Unpublished:.
Gomez Lira (2001) Pancreatology 1:538
Ravnik‐Glavak (1996) Pflugers Arch 431:R191
Weiss (2005) Gut 54:1456
Pelletier (2010) Pancreatology 10:158
Gaia (2002) Dig Dis Sci 47:2416
Centrone (2004) CFTR LSDB entry Pers comm:
Bieth (2003) CFTR LSDB entry Pers comm:
Weiss (2005) Gut 54:1456
Hamoir (2013) Digestion 87:229
Audrezet (2008) J Mol Diagn 10:424
Keiles (2006) Pancreas 33:221
Audrezet (2008) J Mol Diagn 10:424
Keiles (2006) Pancreas 33:221
Keiles (2006) Pancreas 33:221
Keiles (2006) Pancreas 33:221
Rosendahl (2013) Gut 62:582
Keiles (2006) Pancreas 33:221
Source: LSDB
Source: LSDB
PubMed 12120234
PubMed 8992448
PubMed 15987793
PubMed 20460946
PubMed 12452372
Source: LSDB
Source: LSDB
PubMed 15987793
PubMed 23751316
PubMed 18687795
PubMed 17003641
PubMed 18687795
PubMed 17003641
PubMed 17003641
PubMed 17003641
PubMed 22427236
PubMed 17003641
www.ngpd.it
Elenco mutazioni NGPD
CFTR
CFTR
CFTR
CM140645
CM066546
CM920145
CAA‐CGA
CTA‐CCA
ATT‐ACT
Gln1042Arg
Leu1260Pro
Ile148Thr
3125A>G
3779T>C
443T>C
Q1042R
L1260P
I148T
CFTR
CM031945
TCT‐TAT
Ser686Tyr
2057C>A
S686Y
CFTR
CM031946
ATC‐TTC
Ile1366Phe
4096A>T
I1366F
Pancreatitis, chronic
Pancreatitis, chronic
Phenotype modifier
Primary sclerosing cholangitis
Primary sclerosing cholangitis
CFTR
CM074730
ATG‐ATA
Met595Ile
1785G>A
M595I
Respiratory symptoms of cystic fibrosis
CFTR
CM074734
GAC‐GGC
Asp993Gly
2978A>G
D993G
CFTR
CM034388
ATG‐GTG
Met470Val
1408A>G
M470V
CFTR
CM001963
ATA‐GTA
Ile991Val
2971A>G
I991V
COL1A1
CM123295
GCT‐GTT
Ala1174Val
3521C>T
A1174V
COL1A1
CM114195
GCT‐ACT
Ala1218Thr
3652G>A
A1218T
COL1A1
CM123300
GCC‐ACC
Ala1256Thr
3766G>A
A1256T
COL1A1
CM116611
GCC‐GTC
Ala1387Val
4160C>T
A1387V
COL1A1
CM090256
GCT‐ACT
Ala390Thr
1168G>A
A390T
COL1A1
CM145063
GCC‐GTC
Ala723Val
2168C>T
A723V
COL1A1
CM142716
TGC‐TGA
Cys1299Term
3897C>A
C1299*
COL1A1
CM012085
TGC‐TGG
Cys1299Trp
3897C>G
C1299W
COL1A1
CM123296
TGC‐TTC
Cys61Phe
182G>T
C61F
COL1A1
CM062527
GAT‐GAG
Asp1219Glu
3657T>G
D1219E
COL1A1
CM114190
GAT‐AAT
Asp1219Asn
3655G>A
D1219N
COL1A1
CM110799
GAC‐GAG
Asp1277Glu
3831C>G
D1277E
COL1A1
CM930148
GAC‐CAC
Asp1277His
3829G>C
D1277H
COL1A1
CM062524
GAT‐AAT
Asp1413Asn
4237G>A
D1413N
COL1A1
CM091682
GAT‐CAT
Asp1441His
4321G>C
D1441H
COL1A1
CM020370
GAT‐TAT
Asp1441Tyr
4321G>T
D1441Y
COL1A1
CM090696
GAG‐GCG
Glu288Ala
863A>C
E288A
COL1A1
CM062534
GAG‐AAG
Glu288Lys
862G>A
E288K
COL1A1
CM033358
GAG‐TAG
Glu678Term
2032G>T
E678*
COL1A1
CM070712
GGC‐TGC
Gly1001Cys
3001G>T
G1001C
COL1A1
CM890028
GGT‐AGT
Gly1010Ser
3028G>A
G1010S
Sinha (2014) Pancreas 43:146
Keiles (2006) Pancreas 33:221
Tsui (1992) Hum Mutat 1:197
PubMed 24326373
PubMed 17003641
PubMed 1284534
Sheth (2003) Hum Genet 113:286
PubMed 12783301
Sheth (2003) Hum Genet 113:286
PubMed 12783301
Rana‐Díez (2008) J Cyst Fibros 7:520
PubMed 18676185
Respiratory symptoms of cystic fibrosis
Omar (2007) CFTR LSDB entry Unpublished:.
Respiratory/pancreatic disease, association with
Lee (2003) Hum Mol Genet 12:2321
Sarcoidosis, susceptibility to
Bombieri (2000) Eur J Hum Genet 8:717
Osteogenesis imperfecta III
Zhang (2012) J Bone Miner Metab 30:69
Osteogenesis imperfecta
Lindahl (2011) Hum Mutat 32:598
Osteogenesis imperfecta I
Zhang (2012) J Bone Miner Metab 30:69
Osteogenesis imperfecta IIC
Takagi (2011) Am J Med Genet A 155:2269
Osteogenesis imperfecta II
Bodian (2009) Hum Mol Genet 18:463
Osteogenesis imperfecta IV
Stephen (2014) Am J Med Genet A 164:1482
Osteogenesis imperfecta
Lu (2014) Clin Endocrinol (Oxf) 80:524
Osteogenesis imperfecta
Pace (2001) J Med Genet 38:443
Osteogenesis imperfecta I
Zhang (2012) J Bone Miner Metab 30:69
Osteogenesis imperfecta I
Pollitt (2006) Hum Mutat 27:716
Osteogenesis imperfecta
Lindahl (2011) Hum Mutat 32:598
Osteogenesis imperfecta
Pyott (2011) Genet Med 13:125
Osteogenesis imperfecta II
Chessler (1993) J Biol Chem 268:18218
Osteogenesis imperfecta II
Pollitt (2006) Hum Mutat 27:716
Osteogenesis imperfecta I
Ke (2009) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:50
Osteogenesis imperfecta II
Pace (2002) J Med Genet 39:23
Osteogenesis imperfecta II
Bodian (2009) Hum Mol Genet 18:463
Osteogenesis imperfecta I
Pollitt (2006) Hum Mutat 27:716
Osteogenesis imperfecta
Benusiene (2003) J Appl Genet 44:95
Osteogenesis imperfecta II
Marini (2007) Hum Mutat 28:209
Osteogenesis imperfecta IV
Marini (1989) J Biol Chem 264:11893
Source: LSDB
PubMed 12952861
PubMed 10980579
PubMed 21667357
PubMed 21344539
PubMed 21667357
PubMed 21834035
PubMed 18996919
PubMed 24668929
PubMed 24147872
PubMed 11432962
PubMed 21667357
PubMed 16786509
PubMed 21344539
PubMed 21239989
PubMed 8349697
PubMed 16786509
PubMed 19199251
PubMed 11826020
PubMed 18996919
PubMed 16786509
PubMed 12590186
PubMed 17078022
PubMed 2745420
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM070727
GGT‐GCT
Gly1022Ala
3065G>C
G1022A
COL1A1
CM890029
GGT‐AGT
Gly1022Ser
3064G>A
G1022S
COL1A1
CM970350
GGT‐GTT
Gly1022Val
3065G>T
G1022V
COL1A1
CM900069
GGA‐AGA
Gly1025Arg
3073G>A
G1025R
COL1A1
CM070691
GGT‐AGT
Gly1028Ser
3082G>A
G1028S
COL1A1
CM940293
GGC‐AGC
Gly1040Ser
3118G>A
G1040S
COL1A1
CM973112
GGT‐TGT
Gly1046Cys
3136G>T
G1046C
COL1A1
CM070758
GGT‐AGT
Gly1046Ser
3136G>A
G1046S
COL1A1
CM970351
GGT‐AGT
Gly1049Ser
3145G>A
G1049S
COL1A1
CM070759
GGT‐AGT
Gly1052Ser
3154G>A
G1052S
COL1A1
CM090264
GGC‐GAC
Gly1055Asp
3164G>A
G1055D
COL1A1
CM970352
GGC‐AGC
Gly1058Ser
3172G>A
G1058S
COL1A1
CM900070
GGC‐GAC
Gly1061Asp
3182G>A
G1061D
COL1A1
CM940294
GGC‐AGC
Gly1061Ser
3181G>A
G1061S
COL1A1
CM070728
GGT‐GCT
Gly1064Ala
3191G>C
G1064A
COL1A1
CM070693
GGT‐TGT
Gly1076Cys
3226G>T
G1076C
COL1A1
CM970353
GGT‐AGT
Gly1076Ser
3226G>A
G1076S
COL1A1
CM920204
GGC‐AGC
Gly1079Ser
3235G>A
G1079S
COL1A1
CM890030
GGC‐TGC
Gly1082Cys
3244G>T
G1082C
COL1A1
CM070744
GGC‐AGC
Gly1085Ser
3253G>A
G1085S
COL1A1
CM930147
GGA‐GCA
Gly1088Ala
3263G>C
G1088A
COL1A1
CM144919
GGA‐GAA
Gly1088Glu
3263G>A
G1088E
COL1A1
CM900071
GGC‐AGC
Gly1091Ser
3271G>A
G1091S
COL1A1
CM090265
GGT‐AGT
Gly1094Ser
3280G>A
G1094S
COL1A1
CM070704
GGC‐GAC
Gly1100Asp
3299G>A
G1100D
COL1A1
CM890031
GGC‐GCC
Gly1106Ala
3317G>C
G1106A
COL1A1
CM110798
GGT‐AGT
Gly1109Ser
3325G>A
G1109S
COL1A1
CM940295
GGC‐TGC
Gly1124Cys
3370G>T
G1124C
COL1A1
CM890032
GGT‐AGT
Gly1142Ser
3424G>A
G1142S
COL1A1
CM070746
GGC‐TGC
Gly1145Cys
3433G>T
G1145C
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta II/III
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pack (1989) J Biol Chem 264:19694
PubMed 2511192
Korkko (1997) Hum Mutat 9:148
PubMed 9067755
Wallis (1990) J Biol Chem 265:18628
PubMed 2211725
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Virdi (1994) Hum Genet 93:287
PubMed 8125479
Pepin (1997) Prenat Diagn 17:559
PubMed 9203215
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lund (1997) Hum Mutat 9:378
PubMed 9101304
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Lund (1997) Hum Mutat 9:378
PubMed 9101304
Cohn (1990) Am J Hum Genet 46:591
PubMed 2309707
Lightfoot (1994) J Biol Chem 269:30352
PubMed 7982948
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lund (1997) Hum Mutat 9:378
PubMed 9101304
Mottes (1992) Hum Genet 89:480
PubMed 1634225
Constantinou (1989) J Clin Invest 83:574
PubMed 2913053
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Valli (1993) Eur J Biochem 211:415
PubMed 7679635
Xia (2014) Mol Med Rep 9:2187
PubMed 24682174
Cohn (1990) Matrix 10:236A
Source: Meeting abstract
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lamande (1989) J Biol Chem 264:15809
PubMed 2777764
Pyott (2011) Genet Med 13:125
PubMed 21239989
Kwasaka (1994) J Biochem Tokyo 115:853
PubMed 7961597
Wallis (1989) Am J Hum Genet 45:A228
Source: Meeting abstract
Marini (2007) Hum Mutat 28:209
PubMed 17078022
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM070705
GGC‐GAC
Gly1145Asp
3434G>A
G1145D
COL1A1
CM970354
GGC‐AGC
Gly1151Ser
3451G>A
G1151S
COL1A1
CM890033
GGC‐GTC
Gly1151Val
3452G>T
G1151V
COL1A1
CM890034
GGA‐AGA
Gly1154Arg
3460G>A
G1154R
COL1A1
CM068181
GGT‐GAT
Gly1157Asp
3470G>A
G1157D
COL1A1
CM860006
GGT‐TGT
Gly1166Cys
3496G>T
G1166C
COL1A1
CM070694
GGT‐TGT
Gly1169Cys
3505G>T
G1169C
COL1A1
CM070692
GGT‐AGT
Gly1169Ser
3505G>A
G1169S
COL1A1
CM970355
GGT‐GAT
Gly1172Asp
3515G>A
G1172D
COL1A1
CM070775
GGT‐TGT
Gly1175Cys
3523G>T
G1175C
COL1A1
CM070760
GGT‐AGT
Gly1175Ser
3523G>A
G1175S
COL1A1
CM070735
GGT‐GTT
Gly1178Val
3533G>T
G1178V
COL1A1
CM910086
GGC‐AGC
Gly1181Ser
3541G>A
G1181S
COL1A1
CM890035
GGA‐GTA
Gly1184Val
3551G>T
G1184V
COL1A1
CM900073
GGT‐AGT
Gly1187Ser
3559G>A
G1187S
COL1A1
CM900072
GGT‐GTT
Gly1187Val
3560G>T
G1187V
COL1A1
CM880016
GGT‐TGT
Gly1195Cys
3583G>T
G1195C
COL1A1
CM137813
GGA‐TGA
Gly148Term
442G>T
G148*
COL1A1
CM135139
GGT‐GAT
Gly188Asp
563G>A
G188D
COL1A1
CM960319
GGC‐GCC
Gly191Ala
572G>C
G191A
COL1A1
CM051413
GGC‐GAC
Gly191Asp
572G>A
G191D
COL1A1
CM1211671
GGT‐GCT
Gly194Ala
581G>C
G194A
COL1A1
CM062538
GGT‐CGT
Gly194Arg
580G>C
G194R
COL1A1
CM983820
GGT‐TGT
Gly197Cys
589G>T
G197C
COL1A1
CM070716
GGT‐GAT
Gly197Asp
590G>A
G197D
COL1A1
CM062539
GGT‐CGT
Gly197Arg
589G>C
G197R
COL1A1
CM070748
GGT‐AGT
Gly197Ser
589G>A
G197S
COL1A1
CM086454
GGC‐GTC
Gly200Val
599G>T
G200V
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta IIC
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta
Osteogenesis imperfecta/Ehlers‐
Danlos syndrome
Cervical artery dissection
Ehlers‐Danlos syndrome/Osteogenesi
s imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Ehlers‐Danlos syndrome/Osteogenesi
s imperfecta
Osteogenesis imperfecta IV
Osteogenesis imperfecta I
Osteogenesis imperfecta
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Korkko (1997) Hum Mutat 9:148
PubMed 9067755
Lamande (1989) J Biol Chem 264:15809
PubMed 2777764
Lamande (1989) J Biol Chem 264:15809
PubMed 2777764
Wang (2006) Zhonghua Yi Xue Za Zhi 86:170
PubMed 16638323
Cohn (1986) Proc Natl Acad Sci U S A 83:6045
PubMed 3016737
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Mottes (1997) Hum Mutat 12:71
PubMed 10627137
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pruchno (1991) Hum Genet 87:33
PubMed 2037280
Lamande (1989) J Biol Chem 264:15809
PubMed 2777764
Cohn (1990) Matrix 10:236A
Source: Meeting abstract
Cohn (1990) Matrix 10:236A
Source: Meeting abstract
Labhard (1988) Mol Biol Med 5:197
PubMed 3244312
Ben Amor (2013) J Bone Miner Res 28:2001
PubMed 23529829
Malfait (2013) Orphanet J Rare Dis 8:
PubMed 23692737
Mayer (1996) Neurology 47:552
PubMed 8757037
Cabral (2005) J Biol Chem 280:19259
PubMed 15728585
Valentina Gentile (2012) Hum Mutat 33:1697
PubMed 22753364
Lee (2006) Hum Mutat 27:599
PubMed 16705691
Lund (1998) J Craniofac Genet Dev Biol 18:30
PubMed 9594376
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Witecka (2008) J Appl Genet 49:283
PubMed 18670065
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM135140
GGT‐TGT
Gly203Cys
607G>T
G203C
COL1A1
CM070681
GGT‐CGT
Gly203Arg
607G>C
G203R
COL1A1
CM123297
GGT‐AGT
Gly203Ser
607G>A
G203S
COL1A1
CM051414
GGT‐GTT
Gly203Val
608G>T
G203V
COL1A1
CM145060
GGC‐GAC
Gly209Asp
626G>A
G209D
COL1A1
CM123293
GGA‐GAA
Gly212Glu
635G>A
G212E
COL1A1
CM051415
GGA‐AGA
Gly212Arg
634G>A
G212R
COL1A1
CM1313371
GGT‐CGT
Gly215Arg
643G>C
G215R
COL1A1
CM920198
GGT‐TGT
Gly221Cys
661G>T
G221C
COL1A1
CM910077
GGT‐TGT
Gly224Cys
670G>T
G224C
COL1A1
CM1110798
GGT‐AGT
Gly224Ser
670G>A
G224S
COL1A1
CM062525
GGC‐CGC
Gly22Arg
64G>C
G22R
COL1A1
CM070717
GGT‐GAT
Gly239Asp
716G>A
G239D
COL1A1
CM062530
GGT‐GAT
Gly242Asp
725G>A
G242D
COL1A1
CM070747
GGG‐AGG
Gly248Arg
742G>A
G248R
COL1A1
CM070715
GGT‐TGT
Gly251Cys
751G>T
G251C
COL1A1
CM145061
GGT‐CGT
Gly251Arg
751G>C
G251R
COL1A1
CM012742
GGA‐GAA
Gly254Glu
761G>A
G254E
COL1A1
CM070677
GGA‐AGA
Gly254Arg
760G>A
G254R
COL1A1
CM960320
GGA‐AGA
Gly257Arg
769G>A
G257R
COL1A1
CM910078
GGA‐AGA
Gly263Arg
787G>A
G263R
COL1A1
CM930140
GGA‐GTA
Gly263Val
788G>T
G263V
COL1A1
CM051416
GGA‐GAA
Gly266Glu
797G>A
G266E
COL1A1
CM070679
GGT‐AGT
Gly269Ser
805G>A
G269S
COL1A1
CM070729
GGT‐GTT
Gly269Val
806G>T
G269V
COL1A1
CM117851
GGC‐GAC
Gly26Asp
77G>A
G26D
COL1A1
CM890180
GGT‐TGT
Gly272Cys
814G>T
G272C
Osteogenesis imperfecta/Ehlers‐
Danlos syndrome
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta I
Ehlers‐Danlos syndrome/Osteogenesi
s imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Ehlers‐Danlos syndrome/Osteogenesi
s imperfecta
Osteogenesis imperfecta I & valvular heart disease
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta
Osteogenesis imperfecta III
Osteogenesis imperfecta I
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta II/III
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Ehlers‐Danlos syndrome/Osteogenesi
s imperfecta
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta
Osteogenesis imperfecta I
Malfait (2013) Orphanet J Rare Dis 8:
PubMed 23692737
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Cabral (2005) J Biol Chem 280:19259
PubMed 15728585
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Cabral (2005) J Biol Chem 280:19259
PubMed 15728585
Vandersteen (2013) Am J Med Genet A 164A:386
PubMed 24311407
Shapiro (1992) J Clin Invest 89:567
PubMed 1737847
Byers (1991) J Med Genet 28:433
PubMed 1895312
Swinnen (2011) Orphanet J Rare Dis 6:88
PubMed 22206639
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lee (2006) Hum Mutat 27:599
PubMed 16705691
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Cabral (2001) Mol Genet Metab 72:326
PubMed 11286507
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Redford‐Badwal (1996) J Clin Invest 97:1035
PubMed 8613526
Deak (1991) J Biol Chem 266:21827
PubMed 1718984
Valli (1993) Eur J Biochem 217:77
PubMed 8223589
Cabral (2005) J Biol Chem 280:19259
PubMed 15728585
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Fuccio (2011) J Mol Diagn 13:648
PubMed 21884818
Starman (1989) J Clin Invest 84:1206
PubMed 2794057
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM920199
GGT‐GAT
Gly275Asp
824G>A
G275D
COL1A1
CM070761
GGT‐CGT
Gly275Arg
823G>C
G275R
COL1A1
CM070718
GGT‐GAT
Gly281Asp
842G>A
G281D
COL1A1
CM070749
GGT‐AGT
Gly281Ser
841G>A
G281S
COL1A1
CM070723
GGT‐GCT
Gly284Ala
851G>C
G284A
COL1A1
CM070750
GGT‐AGT
Gly284Ser
850G>A
G284S
COL1A1
CM077240
GGT‐AGT
Gly287Ser
859G>A
G287S
COL1A1
CM070719
GGT‐GAT
Gly299Asp
896G>A
G299D
COL1A1
CM045285
GGT‐AGT
Gly299Ser
895G>A
G299S
COL1A1
CM043267
GGC‐CGC
Gly305Arg
913G>C
G305R
COL1A1
CM011289
GGC‐AGC
Gly305Ser
913G>A
G305S
COL1A1
CM070720
GGT‐GAT
Gly311Asp
932G>A
G311D
COL1A1
CM011290
GGT‐CGT
Gly311Arg
931G>C
G311R
COL1A1
CM070736
GGA‐AGA
Gly314Arg
940G>A
G314R
COL1A1
CM062531
GGT‐GTT
Gly320Val
959G>T
G320V
COL1A1
CM124995
GGA‐TGA
Gly323Term
967G>T
G323*
COL1A1
CM070695
GGA‐GAA
Gly323Glu
968G>A
G323E
COL1A1
CM070721
GGT‐GAT
Gly326Asp
977G>A
G326D
COL1A1
CM962767
GGG‐GCG
Gly332Ala
995G>C
G332A
COL1A1
CM910079
GGG‐AGG
Gly332Arg
994G>A
G332R
COL1A1
CM062526
GGC‐TGC
Gly338Cys
1012G>T
G338C
COL1A1
CM070686
GGC‐AGC
Gly338Ser
1012G>A
G338S
COL1A1
CM940290
GGT‐CGT
Gly350Arg
1048G>C
G350R
COL1A1
CM930141
GGT‐TGT
Gly353Cys
1057G>T
G353C
COL1A1
CM090246
GGT‐GAT
Gly353Asp
1058G>A
G353D
COL1A1
CM070713
GGT‐AGT
Gly353Ser
1057G>A
G353S
COL1A1
CM910080
GGT‐TGT
Gly356Cys
1066G>T
G356C
COL1A1
CM070724
GGT‐GCT
Gly365Ala
1094G>C
G365A
COL1A1
CM070730
GGT‐GTT
Gly365Val
1094G>T
G365V
COL1A1
CM070714
GGT‐AGT
Gly368Ser
1102G>A
G368S
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta III
Osteogenesis imperfecta I
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta I
Osteogenesis imperfecta
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II/III
Lightfoot (1992) J Biol Chem 267:25521
PubMed 1460046
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Kataoka (2007) Pediatr Int 49:564
PubMed 17875077
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Nadyrshina (2012) Genetika 48:372
PubMed 22679784
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Krakow (1996) COL1A1 LSDB entry Meeting abstract:
Source: LSDB
Pruchno (1991) Hum Genet 87:33
PubMed 2037280
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Marini (2007) Hum Mutat 28:209
PubMed 17078022
MacKay (1994) Hum Mutat 3:324
PubMed 8019571
Wirtz (1993) Connect Tissue Res 29:1
PubMed 8339541
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Valli (1991) J Biol Chem 266:1872
PubMed 1988452
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM090247
GGT‐GTT
Gly368Val
1103G>T
G368V
COL1A1
CM070751
GGT‐AGT
Gly371Ser
1111G>A
G371S
COL1A1
CM070706
GGC‐GCC
Gly377Ala
1130G>C
G377A
COL1A1
CM070763
GGT‐TGT
Gly380Cys
1138G>T
G380C
COL1A1
CM145062
GGT‐AGT
Gly380Ser
1138G>A
G380S
COL1A1
CM070731
GGT‐GTT
Gly380Val
1139G>T
G380V
COL1A1
CM900063
GGC‐TGC
Gly383Cys
1147G>T
G383C
COL1A1
CM070739
GGC‐AGC
Gly383Ser
1147G>A
G383S
COL1A1
CM942085
GGT‐TGT
Gly389Cys
1165G>T
G389C
COL1A1
CM942084
GGT‐CGT
Gly389Arg
1165G>C
G389R
COL1A1
CM070752
GGT‐AGT
Gly389Ser
1165G>A
G389S
COL1A1
CM070696
GGA‐GAA
Gly392Glu
1175G>A
G392E
COL1A1
CM070753
GGT‐AGT
Gly395Ser
1183G>A
G395S
COL1A1
CM980391
GGT‐GCT
Gly398Ala
1193G>C
G398A
COL1A1
CM070682
GGT‐TGT
Gly398Cys
1192G>T
G398C
COL1A1
CM952153
GGT‐GAT
Gly398Asp
1193G>A
G398D
COL1A1
CM900064
GGT‐TGT
Gly401Cys
1201G>T
G401C
COL1A1
CM070722
GGT‐GAT
Gly401Asp
1202G>A
G401D
COL1A1
CM942086
GGT‐TGT
Gly404Cys
1210G>T
G404C
COL1A1
CM070754
GGT‐AGT
Gly404Ser
1210G>A
G404S
COL1A1
CM070764
GGT‐TGT
Gly407Cys
1219G>T
G407C
COL1A1
CM011291
GGT‐AGT
Gly407Ser
1219G>A
G407S
COL1A1
CM070740
GGC‐AGC
Gly410Ser
1228G>A
G410S
COL1A1
CM070725
GGT‐GCT
Gly413Ala
1238G>C
G413A
COL1A1
CM070707
GGC‐GCC
Gly422Ala
1265G>C
G422A
COL1A1
CM930142
GGC‐TGC
Gly422Cys
1264G>T
G422C
COL1A1
CM930143
GGC‐AGC
Gly425Ser
1273G>A
G425S
COL1A1
CM070765
GGT‐TGT
Gly428Cys
1282G>T
G428C
COL1A1
CM070732
GGT‐GTT
Gly431Val
1292G>T
G431V
COL1A1
CM890027
GGT‐GTT
Gly434Val
1301G>T
G434V
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta II/III
Osteogenesis imperfecta I
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Byers (1990) Trends Genet 6:293
PubMed 2238087
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Wilcox (1994) COL1A1 LSDB entry Meeting abstract:
Source: LSDB
Sztrolovics (1994) Bone 15:321
PubMed 7520724
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Sarafova (1998) Hum Mutat 11:395
PubMed 9600458
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Culbert (1995) Biochem J 311:815
PubMed 7487936
Byers (1990) Trends Genet 6:293
PubMed 2238087
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Wilcox (1994) COL1A1 LSDB entry Meeting abstract:
Source: LSDB
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Fertala (1993) Biochem J 289:195
PubMed 8424758
Mackay (1993) Hum Mol Genet 2:1155
PubMed 7691343
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Patterson (1989) J Biol Chem 264:10083
PubMed 2470760
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM110790
GGT‐GAT
Gly437Asp
1310G>A
G437D
COL1A1
CM070766
GGT‐TGT
Gly455Cys
1363G>T
G455C
COL1A1
CM090248
GGT‐GAT
Gly455Asp
1364G>A
G455D
COL1A1
CM070741
GGC‐AGC
Gly461Ser
1381G>A
G461S
COL1A1
CM070697
GGA‐GAA
Gly464Glu
1391G>A
G464E
COL1A1
CM070737
GGA‐AGA
Gly464Arg
1390G>A
G464R
COL1A1
CM123294
GGA‐GCA
Gly470Ala
1409G>C
G470A
COL1A1
CM090249
GGA‐GTA
Gly470Val
1409G>T
G470V
COL1A1
CM070683
GGA‐AGA
Gly476Arg
1426G>A
G476R
COL1A1
CM910081
GGA‐CGA
Gly476Arg
1426G>C
G476R
COL1A1
CM070699
GGA‐GCA
Gly482Ala
1445G>C
G482A
COL1A1
CM070684
GGA‐AGA
Gly482Arg
1444G>A
G482R
COL1A1
CM070767
GGT‐TGT
Gly491Cys
1471G>T
G491C
COL1A1
CM1211672
GGT‐AGT
Gly491Ser
1471G>A
G491S
COL1A1
CM070768
GGT‐TGT
Gly503Cys
1507G>T
G503C
COL1A1
CM090250
GGT‐GTT
Gly509Val
1526G>T
G509V
COL1A1
CM042008
GGT‐GCT
Gly527Ala
1580G>C
G527A
COL1A1
CM980392
GGT‐TGT
Gly527Cys
1579G>T
G527C
COL1A1
CM962604
GGT‐TGT
Gly530Cys
1588G>T
G530C
COL1A1
CM920200
GGT‐AGT
Gly530Ser
1588G>A
G530S
COL1A1
CM070769
GGT‐TGT
Gly533Cys
1597G>T
G533C
COL1A1
CM941957
GGT‐GAT
Gly533Asp
1598G>A
G533D
COL1A1
CM090251
GGT‐GCT
Gly548Ala
1643G>C
G548A
COL1A1
CM070708
GGC‐GCC
Gly554Ala
1661G>C
G554A
COL1A1
CM900065
GGT‐TGT
Gly560Cys
1678G>T
G560C
COL1A1
CM962422
GGT‐CGT
Gly560Arg
1678G>C
G560R
COL1A1
CM930144
GGT‐AGT
Gly560Ser
1678G>A
G560S
COL1A1
CM024728
GGA‐AGA
Gly566Arg
1696G>A
G566R
COL1A1
CM070685
GGA‐CGA
Gly566Arg
1696G>C
G566R
COL1A1
CM870040
GGC‐CGC
Gly569Arg
1705G>C
G569R
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Pyott (2011) Genet Med 13:125
PubMed 21239989
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Byers (1991) J Med Genet 28:433
PubMed 1895312
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Valentina Gentile (2012) Hum Mutat 33:1697
PubMed 22753364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Sarafova (1998) Hum Mutat 11:395
PubMed 9600458
Cohen (1996) COL1A1 LSDB entry Meeting abstract:
Source: LSDB
Bateman (1992) Biochem J 288:131
PubMed 1445258
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Raghunath (1994) Pediatr Res 36:441
PubMed 7816518
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Byers (1990) Trends Genet 6:293
PubMed 2238087
Cohen‐Solal (1996) Mol Cell Probes 10:219
PubMed 8799376
Mackay (1993) Hum Mol Genet 2:1155
PubMed 7691343
Galicka (2002) Acta Biochim Pol 49:443
PubMed 12362986
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Bateman (1987) J Biol Chem 262:7021
PubMed 3108247
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM062528
GGA‐AGA
Gly581Arg
1741G>A
G581R
COL1A1
CM070726
GGT‐GCT
Gly587Ala
1760G>C
G587A
COL1A1
CM070680
GGT‐AGT
Gly587Ser
1759G>A
G587S
COL1A1
CM910082
GGC‐TGC
Gly593Cys
1777G>T
G593C
COL1A1
CM070701
GGC‐GAC
Gly593Asp
1778G>A
G593D
COL1A1
CM920201
GGC‐AGC
Gly593Ser
1777G>A
G593S
COL1A1
CM090252
GGA‐AGA
Gly602Arg
1804G>A
G602R
COL1A1
CM090253
GGC‐GAC
Gly605Asp
1814G>A
G605D
COL1A1
CM090254
GGA‐CGA
Gly614Arg
1840G>C
G614R
COL1A1
CM070738
GGA‐AGA
Gly617Arg
1849G>A
G617R
COL1A1
CM973108
GGT‐TGT
Gly626Cys
1876G>T
G626C
COL1A1
CM973109
GGT‐AGT
Gly626Ser
1876G>A
G626S
COL1A1
CM973110
GGC‐AGC
Gly629Ser
1885G>A
G629S
COL1A1
CM070678
GGC‐AGC
Gly635Ser
1903G>A
G635S
COL1A1
CM070711
GGC‐GTC
Gly638Val
1913G>T
G638V
COL1A1
CM062537
GGT‐AGT
Gly647Ser
1939G>A
G647S
COL1A1
CM070762
GGT‐CGT
Gly650Arg
1948G>C
G650R
COL1A1
CM970347
GGC‐AGC
Gly656Ser
1966G>A
G656S
COL1A1
CM033357
GGT‐GCT
Gly659Ala
1976G>C
G659A
COL1A1
CM110794
GGC‐AGC
Gly668Ser
2002G>A
G668S
COL1A1
CM062536
GGC‐AGC
Gly683Ser
2047G>A
G683S
COL1A1
CM094476
GGT‐GCT
Gly686Ala
2057G>C
G686A
COL1A1
CM070733
GGT‐GTT
Gly686Val
2057G>T
G686V
COL1A1
CM034878
GGT‐AGT
Gly689Ser
2065G>A
G689S
COL1A1
CM980393
GGT‐TGT
Gly701Cys
2101G>T
G701C
COL1A1
CM070690
GGT‐AGT
Gly701Ser
2101G>A
G701S
COL1A1
CM890181
GGC‐TGC
Gly704Cys
2110G>T
G704C
COL1A1
CM011292
GGC‐AGC
Gly704Ser
2110G>A
G704S
COL1A1
CM910083
GGT‐GAT
Gly719Asp
2156G>A
G719D
COL1A1
CM930145
GGT‐AGT
Gly719Ser
2155G>A
G719S
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Nicholls (1991) J Med Genet 28:757
PubMed 1770532
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Bateman (1992) Biochem J 288:131
PubMed 1445258
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pepin (1997) Prenat Diagn 17:559
PubMed 9203215
Pepin (1997) Prenat Diagn 17:559
PubMed 9203215
Pepin (1997) Prenat Diagn 17:559
PubMed 9203215
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Mottes (1997) Hum Mutat 12:71
PubMed 10627137
Benusiene (2003) J Appl Genet 44:95
PubMed 12590186
Pyott (2011) Genet Med 13:125
PubMed 21239989
Venturi (2006) Clin Genet 70:131
PubMed 16879195
Wang (2009) J Investig Med 57:662
PubMed 19491628
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Galicka (2003) Mol Cell Biochem 248:49
PubMed 12870654
Sarafova (1998) Hum Mutat 11:395
PubMed 9600458
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Starman (1989) J Clin Invest 84:1206
PubMed 2794057
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Zhuang (1991) Am J Hum Genet 48:1186
PubMed 2035536
Mackay (1993) Hum Mol Genet 2:1155
PubMed 7691343
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM062529
GGC‐AGC
Gly722Ser
2164G>A
G722S
COL1A1
CM900066
GGA‐AGA
Gly728Arg
2182G>A
G728R
COL1A1
CM110795
GGT‐GTT
Gly731Val
2192G>T
G731V
COL1A1
CM062532
GGT‐GTT
Gly734Val
2201G>T
G734V
COL1A1
CM014038
GGT‐TGT
Gly737Cys
2209G>T
G737C
COL1A1
CM900325
GGT‐GAT
Gly737Asp
2210G>A
G737D
COL1A1
CM090255
GGG‐CGG
Gly740Arg
2218G>C
G740R
COL1A1
CM110796
GGT‐GAT
Gly743Asp
2228G>A
G743D
COL1A1
CM920202
GGT‐AGT
Gly743Ser
2227G>A
G743S
COL1A1
CM930146
GGT‐GTT
Gly743Val
2228G>T
G743V
COL1A1
CM070742
GGC‐AGC
Gly755Ser
2263G>A
G755S
COL1A1
CM070745
GGC‐TGC
Gly758Cys
2272G>T
G758C
COL1A1
CM110797
GGT‐AGT
Gly764Ser
2290G>A
G764S
COL1A1
CM970348
GGT‐GTT
Gly764Val
2291G>T
G764V
COL1A1
CM940291
GGC‐AGC
Gly767Ser
2299G>A
G767S
COL1A1
CM070770
GGT‐TGT
Gly770Cys
2308G>T
G770C
COL1A1
CM055138
GGT‐AGT
Gly770Ser
2308G>A
G770S
COL1A1
CM043755
GGC‐AGC
Gly773Ser
2317G>A
G773S
COL1A1
CM900067
GGT‐AGT
Gly776Ser
2326G>A
G776S
COL1A1
CM973111
GGT‐AGT
Gly779Ser
2335G>A
G779S
COL1A1
CM042009
GGC‐TGC
Gly788Cys
2362G>T
G788C
COL1A1
CM070687
GGC‐AGC
Gly788Ser
2362G>A
G788S
COL1A1
CM900068
GGC‐AGC
Gly809Ser
2425G>A
G809S
COL1A1
CM070709
GGC‐GCC
Gly815Ala
2444G>C
G815A
COL1A1
CM910084
GGC‐GTC
Gly815Val
2444G>T
G815V
COL1A1
CM070688
GGC‐CGC
Gly821Arg
2461G>C
G821R
COL1A1
CM970349
GGC‐AGC
Gly821Ser
2461G>A
G821S
COL1A1
CM110792
GGT‐GCT
Gly824Ala
2471G>C
G824A
COL1A1
CM070771
GGT‐TGT
Gly824Cys
2470G>T
G824C
COL1A1
CM090257
GGT‐CGT
Gly824Arg
2470G>C
G824R
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta
Osteogenesis imperfecta II
Dentinogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II/III
Osteogenesis imperfecta IV
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Lee (2006) Hum Mutat 27:599
PubMed 16705691
Wallis (1990) Am J Hum Genet 46:1034
PubMed 2339700
Pyott (2011) Genet Med 13:125
PubMed 21239989
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Pallos (2001) Arch Oral Biol 46:459
PubMed 11286811
Cohn (1990) COL1A1 LSDB entry Unpublished:
Source: LSDB
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Pyott (2011) Genet Med 13:125
PubMed 21239989
Bateman (1992) Biochem J 288:131
PubMed 1445258
Mackay (1993) Hum Genet 91:439
PubMed 8100209
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pyott (2011) Genet Med 13:125
PubMed 21239989
Lund (1997) Hum Mutat 9:431
PubMed 9143923
Forlino (1994) Hum Mol Genet 3:2201
PubMed 7881420
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Reis (2005) J Appl Genet 46:105
PubMed 15741671
Chamberlain (2004) Science 303:1198
PubMed 14976317
Westerhausen (1990) J Biol Chem 265:13995
PubMed 2116413
Lund (1997) Acta Paediatr 86:711
PubMed 9240878
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Westerhausen (1990) J Biol Chem 265:13995
PubMed 2116413
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Tsuneyoshi (1991) J Biol Chem 266:15608
PubMed 1874719
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lund (1997) Hum Mutat 9:378
PubMed 9101304
Pyott (2011) Genet Med 13:125
PubMed 21239989
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM055137
GGC‐GAC
Gly827Asp
2480G>A
G827D
COL1A1
CM060927
GGT‐GAT
Gly833Asp
2498G>A
G833D
COL1A1
CM070734
GGT‐GTT
Gly833Val
2498G>T
G833V
COL1A1
CM070710
GGC‐GCC
Gly836Ala
2507G>C
G836A
COL1A1
CM960323
GGT‐AGT
Gly839Ser
2515G>A
G839S
COL1A1
CM070702
GGC‐GAC
Gly842Asp
2525G>A
G842D
COL1A1
CM952154
GGC‐CGC
Gly842Arg
2524G>C
G842R
COL1A1
CM880015
GGA‐AGA
Gly845Arg
2533G>A
G845R
COL1A1
CM090258
GGA‐CGA
Gly845Arg
2533G>C
G845R
COL1A1
CM090259
GGA‐CGA
Gly848Arg
2542G>C
G848R
COL1A1
CM900326
GGC‐GAC
Gly851Asp
2552G>A
G851D
COL1A1
CM070755
GGT‐AGT
Gly854Ser
2560G>A
G854S
COL1A1
CM070772
GGT‐TGT
Gly857Cys
2569G>T
G857C
COL1A1
CM070700
GGA‐GCA
Gly860Ala
2579G>C
G860A
COL1A1
CM110793
GGT‐GTT
Gly863Val
2588G>T
G863V
COL1A1
CM011293
GGC‐TGC
Gly866Cys
2596G>T
G866C
COL1A1
CM990379
GGC‐AGC
Gly866Ser
2596G>A
G866S
COL1A1
CM910085
GGT‐TGT
Gly869Cys
2605G>T
G869C
COL1A1
CM070756
GGT‐AGT
Gly875Ser
2623G>A
G875S
COL1A1
CM139321
GGT‐GAT
Gly878Asp
2633G>A
G878D
COL1A1
CM070757
GGT‐AGT
Gly878Ser
2632G>A
G878S
COL1A1
CM090260
GGT‐AGT
Gly884Ser
2650G>A
G884S
COL1A1
CM070743
GGC‐AGC
Gly887Ser
2659G>A
G887S
COL1A1
CM890182
GGC‐TGC
Gly896Cys
2686G>T
G896C
COL1A1
CM090261
GGC‐GAC
Gly896Asp
2687G>A
G896D
COL1A1
CM145064
GGT‐AGT
Gly911Ser
2731G>A
G911S
COL1A1
CM070698
GGA‐GAA
Gly917Glu
2750G>A
G917E
COL1A1
CM870006
GGT‐TGT
Gly926Cys
2776G>T
G926C
COL1A1
CM070773
GGT‐TGT
Gly944Cys
2830G>T
G944C
COL1A1
CM070774
GGT‐TGT
Gly947Cys
2839G>T
G947C
Osteogenesis imperfecta IIA
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Reis (2005) J Appl Genet 46:105
PubMed 15741671
Aerts (2006) Prenat Diagn 26:394
PubMed 16566045
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Nuytinck (1996) Hum Genet 97:324
PubMed 8786074
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Culbert (1995) Biochem J 311:815
PubMed 7487936
Bateman (1988) J Biol Chem 263:11627
PubMed 3403550
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Cohn (1990) COL1A1 LSDB entry Unpublished:
Source: LSDB
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pyott (2011) Genet Med 13:125
PubMed 21239989
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Lund (1999) Hum Mutat 13:503
PubMed 10408781
Steinmann (1991) Biochem J 279:747
PubMed 1953667
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Cianci (2013) Am J Med Genet A 161:2681
PubMed 23918677
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Starman (1989) J Clin Invest 84:1206
PubMed 2794057
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Vogel (1987) J Biol Chem 262:14737
PubMed 3667599
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM070689
GGG‐AGG
Gly950Arg
2848G>A
G950R
COL1A1
CM070703
GGC‐GAC
Gly962Asp
2885G>A
G962D
COL1A1
CM094107
GGT‐GCT
Gly974Ala
2921G>C
G974A
COL1A1
CM090263
GGC‐GAC
Gly977Asp
2930G>A
G977D
COL1A1
CM920203
GGT‐GTT
Gly980Val
2939G>T
G980V
COL1A1
CM040710
CAT‐TAT
His1323Tyr
3967C>T
H1323Y
COL1A1
CM930150
CTG‐CGG
Leu1388Arg
4163T>G
L1388R
COL1A1
CM960324
CTG‐CCG
Leu1464Pro
4391T>C
L1464P
COL1A1
CM045284
ATG‐GTG
Met1264Val
3790A>G
M1264V
COL1A1
CM137809
ATG‐ACG
Met1Thr
2T>C
M1T
COL1A1
CM142714
AAC‐CAC
Asn1279His
3835A>C
N1279H
COL1A1
CM090262
AAT‐CAT
Asn855His
2563A>C
N855H
COL1A1
COL1A1
CM090266
CM941952
CCC‐ACC
CCT‐GCT
Pro146Thr
Pro205Ala
436C>A
613C>G
P146T
P205A
COL1A1
CM055136
CCC‐GCC
Pro417Ala
1249C>G
P417A
COL1A1
CM062523
CCC‐CGC
Pro555Arg
1664C>G
P555R
COL1A1
CM123298
CAG‐TAG
Gln1117Term
3349C>T
Q1117*
COL1A1
CM137810
CAA‐TAA
Gln1129Term
3385C>T
Q1129*
COL1A1
CM137811
CAG‐TAG
Gln1203Term
3607C>T
Q1203*
COL1A1
CM094108
CAG‐TAG
Gln1304Term
3910C>T
Q1304*
COL1A1
CM1110821
CAG‐TAG
Gln1309Term
3925C>T
Q1309*
COL1A1
CM142717
CAG‐TAG
Gln1341Term
4021C>T
Q1341*
COL1A1
CM137814
CAG‐TAG
Gln367Term
1099C>T
Q367*
COL1A1
CM137808
CAG‐TAG
Gln661Term
1981C>T
Q661*
COL1A1
CM071622
CAA‐TAA
Gln822Term
2464C>T
Q822*
COL1A1
COL1A1
CM040708
CM043756
CAG‐TAG
CGT‐TGT
Gln957Term
Arg1014Cys
2869C>T
3040C>T
Q957*
R1014C
COL1A1
CM040709
CGA‐TGA
Arg1026Term
3076C>T
R1026*
COL1A1
CM080158
CGT‐TGT
Arg1036Cys
3106C>T
R1036C
COL1A1
CM071625
CGT‐TGT
Arg1066Cys
3196C>T
R1066C
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Low bone density
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta
Caffey disease
Osteogenesis imperfecta I
Ehlers‐Danlos syndrome/Osteogenesi
s imperfecta
Ehlers‐Danlos syndrome/Osteogenesi
s imperfecta
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Swinnen (2009) Laryngoscope 119:1171
PubMed 19358256
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Bonaventure (1992) Hum Genet 89:640
PubMed 1511982
Ries‐Levavi (2004) Hum Mutat 23:399
PubMed 15024745
Chessler (1993) J Biol Chem 268:18218
PubMed 8349697
Oliver (1996) Hum Mutat 7:318
PubMed 8723681
Symoens (2004) J Med Genet 41:e96
PubMed 15235039
Ben Amor (2013) J Bone Miner Res 28:2001
PubMed 23529829
Lu (2014) Clin Endocrinol (Oxf) 80:524
PubMed 24147872
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Bodian (2009) Hum Mol Genet 18:463
Spotila (1994) J Bone Miner Res 9:923
PubMed 18996919
PubMed 8079666
Reis (2005) J Appl Genet 46:105
PubMed 15741671
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Ben Amor (2013) J Bone Miner Res 28:2001
PubMed 23529829
Ben Amor (2013) J Bone Miner Res 28:2001
PubMed 23529829
Swinnen (2009) Laryngoscope 119:1171
PubMed 19358256
Swinnen (2011) Orphanet J Rare Dis 6:88
PubMed 22206639
Lu (2014) Clin Endocrinol (Oxf) 80:524
PubMed 24147872
Ben Amor (2013) J Bone Miner Res 28:2001
PubMed 23529829
Ben Amor (2013) J Bone Miner Res 28:2001
PubMed 23529829
Liu (2007) Mol Vis 13:360
PubMed 17392686
Ries‐Levavi (2004) Hum Mutat 23:399
Gensure (2005) J Clin Invest 115:1250
PubMed 15024745
PubMed 15864348
Ries (2000) Prenat Diagn 20:876
PubMed 11113887
Lund (2008) Clin Genet 73:97
PubMed 18028452
Cabral (2007) Hum Mutat 28:396
PubMed 17206620
www.ngpd.it
Elenco mutazioni NGPD
COL1A1
CM071624
CGT‐TGT
Arg1093Cys
3277C>T
R1093C
COL1A1
CM940296
CGA‐TGA
Arg1141Term
3421C>T
R1141*
COL1A1
CM980389
CGA‐TGA
Arg220Term
658C>T
R220*
COL1A1
CM040707
CGA‐TGA
Arg253Term
757C>T
R253*
COL1A1
CM000675
CGC‐TGC
Arg312Cys
934C>T
R312C
COL1A1
CM980390
CGA‐TGA
Arg361Term
1081C>T
R361*
COL1A1
CM960321
CGA‐TGA
Arg415Term
1243C>T
R415*
COL1A1
CM094109
CGA‐TGA
Arg469Term
1405C>T
R469*
COL1A1
CM062533
CGA‐TGA
Arg472Term
1414C>T
R472*
COL1A1
CM071623
CGT‐TGT
Arg574Cys
1720C>T
R574C
COL1A1
CM043754
CGA‐TGA
Arg598Term
1792C>T
R598*
COL1A1
CM960322
CGA‐TGA
Arg697Term
2089C>T
R697*
COL1A1
CM940292
CGT‐CAT
Arg796His
2387G>A
R796H
COL1A1
CM042010
CGA‐TGA
Arg882Term
2644C>T
R882*
COL1A1
CM123299
AGC‐GGC
Ser1199Gly
3595A>G
S1199G
COL1A1
CM088316
ACC‐ATC
Thr1298Ile
3893C>T
T1298I
COL1A1
CM142715
ACC‐AAC
Thr1298Asn
3893C>A
T1298N
COL1A1
CM117852
ACC‐ATC
Thr1432Ile
4295C>T
T1432I
COL1A1
CM145065
GTC‐GAC
Val1410Asp
4229T>A
V1410D
COL1A1
CM086455
GTT‐TTT
Val349Phe
1045G>T
V349F
COL1A1
CM062535
TGG‐TAG
Trp1269Term
3806G>A
W1269*
COL1A1
CM930149
TGG‐TGT
Trp1312Cys
3936G>T
W1312C
COL1A1
CM042011
TGG‐TAG
Trp1325Term
3974G>A
W1325*
COL1A1
CM137812
TGG‐TGA
Trp1325Term
3975G>A
W1325*
COL1A2
CM135141
GGC‐GAC
Gly109Asp
326G>A
G109D
COL1A2
CM070817
GGT‐GAT
Gly118Asp
353G>A
G118D
COL1A2
CM070818
GGT‐GAT
Gly124Asp
371G>A
G124D
COL1A2
CM070819
GGT‐GAT
Gly130Asp
389G>A
G130D
COL1A2
CM070858
GGT‐AGT
Gly133Ser
397G>A
G133S
Osteopenia with arterial rupture
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta
Ehlers‐Danlos syndrome
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteopenia with arterial rupture
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Connective tissue weakness
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta
Osteogenesis imperfecta/Ehlers‐
Danlos syndrome
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Malfait (2007) Hum Mutat 28:387
PubMed 17211858
Willing (1994) Am J Hum Genet 55:638
PubMed 7942841
Korkko (1998) Am J Hum Genet 62:98
PubMed 9443882
Ries‐Levavi (2004) Hum Mutat 23:399
PubMed 15024745
Nuytinck (2000) Am J Hum Genet 66:1398
PubMed 10739762
Korkko (1998) Am J Hum Genet 62:98
PubMed 9443882
Willing (1996) Am J Hum Genet 59:799
PubMed 8808594
Swinnen (2009) Laryngoscope 119:1171
PubMed 19358256
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Malfait (2007) Hum Mutat 28:387
PubMed 17211858
Siegert (2004) Klin Padiatr 216:91
PubMed 15106082
Willing (1996) Am J Hum Genet 59:799
PubMed 8808594
Superti‐Furga (1994) Matrix Biol 14:385A
Source: Meeting abstract
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Obafemi (2008) Am J Med Genet A 146A:2725
PubMed 18798308
Lu (2014) Clin Endocrinol (Oxf) 80:524
PubMed 24147872
Fuccio (2011) J Mol Diagn epub:epub
PubMed 21884818
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Witecka (2008) J Appl Genet 49:283
PubMed 18670065
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Bateman (1993) Am J Med Genet 45:233
PubMed 8456808
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Ben Amor (2013) J Bone Miner Res 28:2001
PubMed 23529829
Malfait (2013) Orphanet J Rare Dis 8:
PubMed 23692737
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
www.ngpd.it
Elenco mutazioni NGPD
COL1A2
CM070834
GGT‐GTT
Gly166Val
497G>T
G166V
COL1A2
CM034879
CAC‐GAC
His182Asp
544C>G
H182D
COL1A2
CM070794
GGA‐GTA
Gly190Val
569G>T
G190V
COL1A2
CM070820
GGT‐GAT
Gly193Asp
578G>A
G193D
COL1A2
CM062541
GGT‐AGT
Gly193Ser
577G>A
G193S
COL1A2
CM1211686
GGT‐GAT
Gly196Asp
587G>A
G196D
COL1A2
CM123311
GGT‐TGT
Gly196Cys
586G>T
G196C
COL1A2
CM135142
GGT‐GTT
Gly196Val
587G>T
G196V
COL1A2
CM062555
GGT‐CGT
Gly202Arg
604G>C
G202R
COL1A2
CM070821
GGT‐GAT
Gly202Asp
605G>A
G202D
COL1A2
CM960325
GGT‐GAT
Gly211Asp
632G>A
G211D
COL1A2
CM011294
GGG‐GTG
Gly217Val
650G>T
G217V
COL1A2
CM090272
CGT‐TGT
Arg234Cys
700C>T
R234C
COL1A2
CM062556
GGT‐CGT
Gly247Arg
739G>C
G247R
COL1A2
CM070822
GGT‐GAT
Gly247Asp
740G>A
G247D
COL1A2
CM062544
GGC‐GAC
Gly253Asp
758G>A
G253D
COL1A2
CM070797
GGC‐GAC
Gly256Asp
767G>A
G256D
COL1A2
CM062547
GGC‐GTC
Gly256Val
767G>T
G256V
COL1A2
CM137632
GGT‐AGT
Gly259Ser
775G>A
G259S
COL1A2
CM973113
GGT‐GAT
Gly265Asp
794G>A
G265D
COL1A2
CM1211688
GGT‐CGT
Gly271Arg
811G>C
G271R
COL1A2
CM011295
GGT‐GAT
Gly274Asp
821G>A
G274D
COL1A2
CM070835
GGT‐GTT
Gly274Val
821G>T
G274V
COL1A2
CM070786
GGT‐AGT
Gly280Ser
838G>A
G280S
COL1A2
CM088317
GGT‐GTT
Gly280Val
839G>T
G280V
COL1A2
CM090273
GGT‐CGT
Gly283Arg
847G>C
G283R
COL1A2
CM011296
GGT‐GCT
Gly286Ala
857G>C
G286A
COL1A2
CM070836
GGT‐GTT
Gly286Val
857G>T
G286V
COL1A2
CM962605
GGC‐GCC
Gly289Ala
866G>C
G289A
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta/Ehlers‐
Danlos syndrome
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II/III
Osteogenesis imperfecta IV
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Galicka (2003) Acta Biochim Pol 50:481
PubMed 12833172
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Venturi (2006) Clin Genet 70:131
PubMed 16879195
Valentina Gentile (2012) Hum Mutat 33:1697
PubMed 22753364
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Malfait (2013) Orphanet J Rare Dis 8:
PubMed 23692737
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Zhuang (1996) Hum Mutat 7:89
PubMed 8829649
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Adur (2013) PLoS One 8:e69186
PubMed 23869235
Lund (1997) Acta Paediatr 86:711
PubMed 9240878
Valentina Gentile (2012) Hum Mutat 33:1697
PubMed 22753364
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Obafemi (2008) Am J Med Genet A 146A:2725
PubMed 18798308
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Krakow (1996) COL1A2 LSDB entry Meeting abstract:
Source: LSDB
www.ngpd.it
Elenco mutazioni NGPD
COL1A2
CM070803
GGC‐GTC
Gly289Val
866G>T
G289V
COL1A2
CM141560
GGC‐GAC
Gly292Asp
875G>A
G292D
COL1A2
CM070795
GGA‐GTA
Gly295Val
884G>T
G295V
COL1A2
CM011297
GGT‐CGT
Gly298Arg
892G>C
G298R
COL1A2
CM070823
GGT‐GAT
Gly307Asp
920G>A
G307D
COL1A2
CM070815
GGT‐CGT
Gly310Arg
928G>C
G310R
COL1A2
CM070785
GGC‐CGC
Gly316Arg
946G>C
G316R
COL1A2
CM1211689
GGC‐AGC
Gly316Ser
946G>A
G316S
COL1A2
CM062553
GGG‐AGG
Gly319Arg
955G>A
G319R
COL1A2
CM042012
GGC‐AGC
Gly322Ser
964G>A
G322S
COL1A2
CM062543
GGA‐GAA
Gly325Glu
974G>A
G325E
COL1A2
CM070824
GGT‐GAT
Gly328Asp
983G>A
G328D
COL1A2
CM011298
GGT‐TGT
Gly328Cys
982G>T
G328C
COL1A2
CM950287
GGT‐AGT
Gly328Ser
982G>A
G328S
COL1A2
CM990380
GGC‐GAC
Gly331Asp
992G>A
G331D
COL1A2
CM070804
GGC‐GTC
Gly331Val
992G>T
G331V
COL1A2
CM070859
GGT‐AGT
Gly334Ser
1000G>A
G334S
COL1A2
CM070788
GGT‐CGT
Gly337Arg
1009G>C
G337R
COL1A2
CM970356
GGT‐TGT
Gly337Cys
1009G>T
G337C
COL1A2
CM960326
GGT‐AGT
Gly337Ser
1009G>A
G337S
COL1A2
CM070868
GGT‐CGT
Gly340Arg
1018G>C
G340R
COL1A2
CM070860
GGT‐AGT
Gly340Ser
1018G>A
G340S
COL1A2
CM070871
GGT‐TGT
Gly346Cys
1036G>T
G346C
COL1A2
CM070861
GGT‐AGT
Gly346Ser
1036G>A
G346S
COL1A2
CM072955
GGT‐GTT
Gly346Val
1037G>T
G346V
COL1A2
CM910087
GGT‐TGT
Gly349Cys
1045G>T
G349C
COL1A2
CM070862
GGT‐AGT
Gly349Ser
1045G>A
G349S
COL1A2
CM973114
GGT‐TGT
Gly358Cys
1072G>T
G358C
COL1A2
CM062542
GGT‐AGT
Gly358Ser
1072G>A
G358S
COL1A2
CM011299
GGC‐AGC
Gly364Ser
1090G>A
G364S
Osteogenesis imperfecta III
Osteogenesis imperfecta I
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta I
Osteogenesis imperfecta III
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Fratzl‐Zelman (2014) Bone 60:122
PubMed 24296239
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Valentina Gentile (2012) Hum Mutat 33:1697
PubMed 22753364
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Lee (2006) Hum Mutat 27:599
PubMed 16705691
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Trummer (2001) Clin Genet 59:338
PubMed 11359465
Rose (1995) Hum Genet 95:215
PubMed 7860070
Lund (1999) Hum Mutat 13:503
PubMed 10408781
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Korkko (1997) Hum Mutat 9:148
PubMed 9067755
Zhuang (1996) Hum Mutat 7:89
PubMed 8829649
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Parmar (2007) J Neurosurg 106:57
PubMed 17233315
Wenstrup (1991) J Biol Chem 266:2590
PubMed 1990009
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lund (1997) Acta Paediatr 86:711
PubMed 9240878
Lee (2006) Hum Mutat 27:599
PubMed 16705691
Ward (2001) Hum Mutat 17:434
PubMed 11317364
www.ngpd.it
Elenco mutazioni NGPD
COL1A2
CM145066
GGG‐GAG
Gly367Glu
1100G>A
G367E
COL1A2
CM001074
GGG‐TGG
Gly367Trp
1099G>T
G367W
COL1A2
CM042013
GGT‐GCT
Gly370Ala
1109G>C
G370A
COL1A2
CM973115
GGT‐AGT
Gly370Ser
1108G>A
G370S
COL1A2
CM973116
GGT‐GAT
Gly376Asp
1127G>A
G376D
COL1A2
CM070837
GGT‐GTT
Gly376Val
1127G>T
G376V
COL1A2
CM1211690
GGG‐AGG
Gly385Arg
1153G>A
G385R
COL1A2
CM070809
GGG‐GAG
Gly385Glu
1154G>A
G385E
COL1A2
CM070796
GGA‐GTA
Gly388Val
1163G>T
G388V
COL1A2
CM011300
GGC‐TGC
Gly391Cys
1171G>T
G391C
COL1A2
CM070784
GGC‐AGC
Gly391Ser
1171G>A
G391S
COL1A2
CM090274
GGG‐GAG
Gly397Glu
1190G>A
G397E
COL1A2
CM042014
GGT‐AGT
Gly406Ser
1216G>A
G406S
COL1A2
CM983821
GGA‐GTA
Gly409Val
1226G>T
G409V
COL1A2
CM070798
GGC‐GAC
Gly418Asp
1253G>A
G418D
COL1A2
CM070812
GGC‐AGC
Gly418Ser
1252G>A
G418S
COL1A2
CM070863
GGT‐AGT
Gly424Ser
1270G>A
G424S
COL1A2
CM070852
GGC‐AGC
Gly427Ser
1279G>A
G427S
COL1A2
CM930151
GGA‐GAA
Gly433Glu
1298G>A
G433E
COL1A2
CM1311796
GGT‐GAT
Gly439Asp
1316G>A
G439D
COL1A2
CM070869
GGT‐CGT
Gly445Arg
1333G>C
G445R
COL1A2
CM070789
GGA‐GAA
Gly448Glu
1343G>A
G448E
COL1A2
CM070872
GGT‐TGT
Gly454Cys
1360G>T
G454C
COL1A2
CM960327
GGC‐AGC
Gly460Ser
1378G>A
G460S
COL1A2
CM020371
GGC‐GCC
Gly469Ala
1406G>C
G469A
COL1A2
CM070799
GGC‐GAC
Gly478Asp
1433G>A
G478D
COL1A2
CM070805
GGC‐GTC
Gly478Val
1433G>T
G478V
COL1A2
CM070790
GGA‐GAA
Gly484Glu
1451G>A
G484E
COL1A2
CM973117
GGA‐GTA
Gly484Val
1451G>T
G484V
COL1A2
CM1313963
GGA‐AGA
Gly487Arg
1459G>A
G487R
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta II/III
Osteogenesis imperfecta II/III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II/III
Osteogenesis imperfecta II/III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II/III
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta II/III
Osteogenesis imperfecta II/III
Osteogenesis imperfecta I
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Nuytinck (2000) J Med Genet 37:371
PubMed 10807697
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Lund (1997) Acta Paediatr 86:711
PubMed 9240878
Lund (1997) Acta Paediatr 86:711
PubMed 9240878
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Valentina Gentile (2012) Hum Mutat 33:1697
PubMed 22753364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Mottes (1997) Hum Mutat 12:71
PubMed 10627137
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Rose (1993) Hum Mol Genet 2:2175
PubMed 7906591
Reuter (2013) Eur J Med Genet 56:669
PubMed 24140640
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Zhuang (1996) Hum Mutat 7:89
PubMed 8829649
Johnson (2002) J Med Genet 39:128
PubMed 11836364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lund (1997) Acta Paediatr 86:711
PubMed 9240878
McInerney‐Leo (2013) Bonekey Rep 2:456
PubMed 24501682
www.ngpd.it
Elenco mutazioni NGPD
COL1A2
CM070791
GGA‐GAA
Gly493Glu
1478G>A
G493E
COL1A2
CM145067
GGA‐GTA
Gly493Val
1478G>T
G493V
COL1A2
CM070806
GGC‐GTC
Gly499Val
1496G>T
G499V
COL1A2
CM070825
GGT‐GAT
Gly508Asp
1523G>A
G508D
COL1A2
CM980394
GGT‐GAT
Gly511Asp
1532G>A
G511D
COL1A2
CM070777
GGT‐AGT
Gly511Ser
1531G>A
G511S
COL1A2
CM070838
GGT‐GTT
Gly511Val
1532G>T
G511V
COL1A2
CM942087
GGT‐CGT
Gly517Arg
1549G>C
G517R
COL1A2
CM133814
GGT‐GAT
Gly517Asp
1550G>A
G517D
COL1A2
CM145068
GGT‐AGT
Gly517Ser
1549G>A
G517S
COL1A2
CM070814
GGT‐AGT
Gly520Ser
1558G>A
G520S
COL1A2
CM990381
GGA‐AGA
Gly526Arg
1576G>A
G526R
COL1A2
CM011301
GGA‐GAA
Gly526Glu
1577G>A
G526E
COL1A2
CM962606
GGT‐TGT
Gly529Cys
1585G>T
G529C
COL1A2
CM011302
GGA‐GAA
Gly532Glu
1595G>A
G532E
COL1A2
CM070781
GGT‐TGT
Gly541Cys
1621G>T
G541C
COL1A2
CM070778
GGT‐AGT
Gly544Ser
1630G>A
G544S
COL1A2
CM070839
GGT‐GTT
Gly544Val
1631G>T
G544V
COL1A2
CM920205
GGT‐CGT
Gly547Arg
1639G>C
G547R
COL1A2
HM090036
GGT‐AGT
Gly550Ser
1648G>A
G550S
COL1A2
CM070800
GGC‐GAC
Gly553Asp
1658G>A
G553D
COL1A2
CM145069
GGC‐GTC
Gly553Val
1658G>T
G553V
COL1A2
CM920206
GGT‐TGT
Gly562Cys
1684G>T
G562C
COL1A2
CM090275
GGT‐GTT
Gly562Val
1685G>T
G562V
COL1A2
CM011303
GGA‐AGA
Gly571Arg
1711G>A
G571R
COL1A2
CM900327
GGT‐CGT
Gly586Arg
1756G>C
G586R
COL1A2
CM940297
GGT‐AGT
Gly592Ser
1774G>A
G592S
COL1A2
CM070782
GGT‐TGT
Gly595Cys
1783G>T
G595C
COL1A2
CM042015
GGT‐AGT
Gly595Ser
1783G>A
G595S
COL1A2
CM070840
GGT‐GTT
Gly598Val
1793G>T
G598V
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteoporosis, juvenile
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Forlino (1998) Matrix Biol 17:575
PubMed 9923651
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Sztrolovics (1994) Bone 15:321
PubMed 7520724
Majka (2013) Open J Genet 3:49
PubMed: No PubMed ID
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Dawson (1999) J Bone Miner Res 14:449
PubMed 10027910
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Mottes (1996) COL1A2 LSDB entry Unpublished:
Source: LSDB
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Bateman (1992) Hum Mutat 1:55
PubMed 1284475
Lin (2010) Hum Genet 127:466
PubMed 21488275
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Edwards (1992) Hum Mutat 1:47
PubMed 1301191
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Bateman (1990) COL1A2 LSDB entry Unpublished:
Source: LSDB
Rose (1994) Hum Genet 94:497
PubMed 7959683
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Marini (2007) Hum Mutat 28:209
PubMed 17078022
www.ngpd.it
Elenco mutazioni NGPD
COL1A2
CM070826
GGT‐GAT
Gly601Asp
1802G>A
G601D
COL1A2
CM011304
GGT‐AGT
Gly601Ser
1801G>A
G601S
COL1A2
CM062548
GGT‐GAT
Gly625Asp
1874G>A
G625D
COL1A2
CM011305
GGT‐CGT
Gly628Arg
1882G>C
G628R
COL1A2
CM930152
GGT‐GTT
Gly634Val
1901G>T
G634V
COL1A2
CM880017
GGT‐GAT
Gly637Asp
1910G>A
G637D
COL1A2
CM070792
GGA‐GAA
Gly640Glu
1919G>A
G640E
COL1A2
HM090037
GGT‐TGT
Gly646Cys
1936G>T
G646C
COL1A2
CM070841
GGT‐GTT
Gly646Val
1937G>T
G646V
COL1A2
CM123312
GGT‐TGT
Gly661Cys
1981G>T
G661C
COL1A2
CM070864
GGT‐AGT
Gly661Ser
1981G>A
G661S
COL1A2
CM070842
GGT‐GTT
Gly661Val
1982G>T
G661V
COL1A2
CM011306
GGT‐GAT
Gly664Asp
1991G>A
G664D
COL1A2
CM920207
GGC‐GAC
Gly670Asp
2009G>A
G670D
COL1A2
CM011307
GGT‐CGT
Gly676Arg
2026G>C
G676R
COL1A2
CM062549
GGT‐GAT
Gly676Asp
2027G>A
G676D
COL1A2
CM910088
GGT‐GTT
Gly676Val
2027G>T
G676V
COL1A2
CM070827
GGT‐GAT
Gly682Asp
2045G>A
G682D
COL1A2
CM070828
GGT‐GAT
Gly700Asp
2099G>A
G700D
COL1A2
CM994119
GGT‐TGT
Gly700Cys
2098G>T
G700C
COL1A2
CM070829
GGT‐GAT
Gly712Asp
2135G>A
G712D
COL1A2
CM973118
GGT‐AGT
Gly712Ser
2134G>A
G712S
COL1A2
CM931214
GGT‐GAT
Gly715Asp
2144G>A
G715D
COL1A2
CM070787
GGT‐AGT
Gly718Ser
2152G>A
G718S
COL1A2
CM070853
GGC‐AGC
Gly721Ser
2161G>A
G721S
COL1A2
CM127973
GGT‐CGT
Gly730Arg
2188G>C
G730R
COL1A2
CM942088
GGT‐TGT
Gly730Cys
2188G>T
G730C
COL1A2
CM062557
GGT‐TGT
Gly733Cys
2197G>T
G733C
COL1A2
CM910089
GGT‐TGT
Gly736Cys
2206G>T
G736C
COL1A2
CM070776
GGA‐AGA
Gly739Arg
2215G>A
G739R
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta I
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta III
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Venturi (2006) Clin Genet 70:131
PubMed 16879195
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Sztrolovics (1993) Hum Mol Genet 2:1319
PubMed 8401517
Bonadio (1988) Coll Relat Res 8:506A
Source: Meeting abstract
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lin (2010) Hum Genet 127:466
PubMed 21488249
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Niyibizi (1992) J Biol Chem 267:23108
PubMed 1385413
Ward (2001) Hum Mutat 17:434
PubMed 11317364
Lee (2006) Hum Mutat 27:599
PubMed 16705691
Bateman (1991) Biochem J 276:765
PubMed 2064612
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
McBride (1999) COL1A2 LSDB entry Unpublished:
Source: LSDB
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lund (1997) Acta Paediatr 86:711
PubMed 9240878
Byers (1993) COL1A2 LSDB entry Unpublished:
Source: LSDB
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Hachiya (2012) Neuropediatrics 43:225
PubMed 22911485
Gomez‐Lira (1994) J Med Genet 31:965
PubMed 7891382
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Wenstrup (1991) J Biol Chem 266:2590
PubMed 1990009
Marini (2007) Hum Mutat 28:209
PubMed 17078022
www.ngpd.it
Elenco mutazioni NGPD
COL1A2
CM090276
GGA‐CGA
Gly739Arg
2215G>C
G739R
COL1A2
CM070810
GGG‐GAG
Gly745Glu
2234G>A
G745E
COL1A2
CM145071
GGT‐AGT
Gly748Ser
2242G>A
G748S
COL1A2
CM090277
GGT‐GTT
Gly748Val
2243G>T
G748V
COL1A2
CM145070
GGT‐GTT
Gly751Val
2252G>T
G751V
COL1A2
CM062558
GGT‐TGT
Gly754Cys
2260G>T
G754C
COL1A2
CM070807
GGC‐GTC
Gly757Val
2270G>T
G757V
COL1A2
CM133325
GGA‐GAA
Gly760Glu
2279G>A
G760E
COL1A2
HM090038
GGC‐GAC
Gly763Asp
2288G>A
G763D
COL1A2
CM973119
GGC‐GTC
Gly763Val
2288G>T
G763V
COL1A2
CM070865
GGT‐AGT
Gly766Ser
2296G>A
G766S
COL1A2
CM930153
GGT‐GTT
Gly766Val
2297G>T
G766V
COL1A2
CM973120
GGT‐AGT
Gly772Ser
2314G>A
G772S
COL1A2
CM950288
GGT‐AGT
Gly778Ser
2332G>A
G778S
COL1A2
CM910091
GGT‐CGT
Gly784Arg
2350G>C
G784R
COL1A2
CM070866
GGT‐AGT
Gly784Ser
2350G>A
G784S
COL1A2
CM110801
GGT‐GAT
Gly787Asp
2360G>A
G787D
COL1A2
CM970357
GGT‐TGT
Gly787Cys
2359G>T
G787C
COL1A2
CM940298
GGT‐GAT
Gly790Asp
2369G>A
G790D
COL1A2
CM070848
GGA‐AGA
Gly793Arg
2377G>A
G793R
COL1A2
CM042016
GGA‐CGA
Gly793Arg
2377G>C
G793R
COL1A2
CM070833
GGT‐GCT
Gly796Ala
2387G>C
G796A
COL1A2
CM077241
GGT‐TGT
Gly796Cys
2386G>T
G796C
COL1A2
CM930154
GGT‐AGT
Gly796Ser
2386G>A
G796S
COL1A2
CM1110848
GGC‐CGC
Gly805Arg
2413G>C
G805R
COL1A2
CM070856
GGC‐TGC
Gly805Cys
2413G>T
G805C
COL1A2
CM117850
CCT‐TCT
Pro810Ser
2428C>T
P810S
COL1A2
CM1110831
GGT‐GCT
Gly811Ala
2432G>C
G811A
COL1A2
CM123313
GGG‐GTG
Gly817Val
2450G>T
G817V
COL1A2
CM062554
GGT‐AGT
Gly820Ser
2458G>A
G820S
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta III
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta I
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Stephen (2014) Am J Med Genet A 164:1482
PubMed 24668929
Venturi (2006) Clin Genet 70:131
PubMed 16879195
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Chen (2013) Taiwan J Obstet Gynecol 52:152
PubMed 23548243
Lin (2010) Hum Genet 127:467
PubMed 21488294
Lund (1997) Acta Paediatr 86:711
PubMed 9240878
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Wang (1993) J Biol Chem 268:25162
PubMed 7693712
Nuytinck (1997) Eur J Hum Genet 5:161
PubMed 9272740
Raghunath (1995) Eur J Pediatr 154:123
PubMed 7720740
Tsuneyoshi (1991) J Biol Chem 266:15608
PubMed 1874719
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pyott (2011) Genet Med 13:125
PubMed 21239989
Mottes (1997) Hum Mutat 12:71
PubMed 10627137
Cohen‐Solal (1994) J Biol Chem 269:14751
PubMed 8182080
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Kataoka (2007) Pediatr Int 49:564
PubMed 17875077
Wang (1993) J Biol Chem 268:25162
PubMed 7693712
Swinnen (2011) Orphanet J Rare Dis 6:88
PubMed 22206639
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Fuccio (2011) J Mol Diagn epub:epub
PubMed 21884818
Swinnen (2011) Orphanet J Rare Dis 6:88
PubMed 22206639
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Lee (2006) Hum Mutat 27:599
PubMed 16705691
www.ngpd.it
Elenco mutazioni NGPD
COL1A2
HM090040
GGT‐TGT
Gly823Cys
2467G>T
G823C
COL1A2
CM070854
GGC‐AGC
Gly829Ser
2485G>A
G829S
COL1A2
CM960328
GGT‐AGT
Gly835Ser
2503G>A
G835S
COL1A2
CM970358
GGC‐AGC
Gly841Ser
2521G>A
G841S
COL1A2
CM070816
GGT‐CGT
Gly847Arg
2539G>C
G847R
COL1A2
HM090039
GGT‐GAT
Gly853Asp
2558G>A
G853D
COL1A2
CM070843
GGT‐GTT
Gly853Val
2558G>T
G853V
COL1A2
CM062552
GGA‐AGA
Gly856Arg
2566G>A
G856R
COL1A2
CM090278
GGA‐GTA
Gly856Val
2567G>T
G856V
COL1A2
CM042017
GGC‐AGC
Gly859Ser
2575G>A
G859S
COL1A2
CM930155
GGC‐TGC
Gly877Cys
2629G>T
G877C
COL1A2
CM070779
GGT‐AGT
Gly880Ser
2638G>A
G880S
COL1A2
CM960329
GGT‐GAT
Gly892Asp
2675G>A
G892D
COL1A2
CM900075
GGT‐GAT
Gly895Asp
2684G>A
G895D
COL1A2
CM973121
GGC‐AGC
Gly901Ser
2701G>A
G901S
COL1A2
CM042018
GGG‐CGG
Gly904Arg
2710G>C
G904R
COL1A2
CM1110799
GGA‐AGA
Gly916Arg
2746G>A
G916R
COL1A2
CM070851
GGA‐CGA
Gly916Arg
2746G>C
G916R
COL1A2
CM062559
GGT‐TGT
Gly925Cys
2773G>T
G925C
COL1A2
HM090041
GGT‐GAT
Gly934Asp
2801G>A
G934D
COL1A2
CM070783
GGT‐TGT
Gly937Cys
2809G>T
G937C
COL1A2
CM070811
GGA‐AGA
Gly946Arg
2836G>A
G946R
COL1A2
CM940299
GGT‐AGT
Gly949Ser
2845G>A
G949S
COL1A2
CM090279
GGT‐GAT
Gly955Asp
2864G>A
G955D
COL1A2
CM070873
GGT‐TGT
Gly955Cys
2863G>T
G955C
COL1A2
CM930156
GGT‐AGT
Gly955Ser
2863G>A
G955S
COL1A2
CM070830
GGT‐GAT
Gly970Asp
2909G>A
G970D
COL1A2
CM070801
GGC‐GAC
Gly973Asp
2918G>A
G973D
COL1A2
CM990382
GGC‐GTC
Gly973Val
2918G>T
G973V
COL1A2
CM062550
GGT‐GAT
Gly982Asp
2945G>A
G982D
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta I
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta I
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Lin (2010) Hum Genet 127:467
PubMed 21488276
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Zhuang (1996) Hum Mutat 7:89
PubMed 8829649
De Paepe (1997) Hum Genet 99:478
PubMed 9099837
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lin (2010) Hum Genet 127:467
PubMed 21488231
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lee (2006) Hum Mutat 27:599
PubMed 16705691
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Fertala (1993) Biochem J 289:195
PubMed 8424758
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lund (1996) Eur J Hum Genet 4:39
PubMed 8800927
Grange (1990) Nucleic Acids Res 18:4227
PubMed 1696002
Nuytinck (1997) Eur J Hum Genet 5:161
PubMed 9272740
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Swinnen (2011) Orphanet J Rare Dis 6:88
PubMed 22206639
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Venturi (2006) Clin Genet 70:131
PubMed 16879195
Lin (2010) Hum Genet 127:468
PubMed 21488295
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Rose (1994) Hum Mutat 3:391
PubMed 8081394
Bodian (2009) Hum Mol Genet 18:463
PubMed 18996919
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lamande (1989) J Biol Chem 264:15809
PubMed 2777764
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lund (1999) Hum Mutat 13:503
PubMed 10408781
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
www.ngpd.it
Elenco mutazioni NGPD
COL1A2
CM070844
GGT‐GTT
Gly982Val
2945G>T
G982V
COL1A2
CM070845
GGT‐GTT
Gly988Val
2963G>T
G988V
COL1A2
CM062551
GGT‐GTT
Gly991Val
2972G>T
G991V
COL1A2
CM110802
GGC‐GAC
Gly994Asp
2981G>A
G994D
COL1A2
CM890036
GGT‐GAT
Gly997Asp
2990G>A
G997D
COL1A2
CM062545
GGC‐GAC
Gly1003Asp
3008G>A
G1003D
COL1A2
CM070855
GGC‐AGC
Gly1006Ser
3016G>A
G1006S
COL1A2
CM930157
GGT‐AGT
Gly1012Ser
3034G>A
G1012S
COL1A2
CM1110830
GGG‐AGG
Gly1015Arg
3043G>A
G1015R
COL1A2
CM070813
GGG‐CGG
Gly1015Arg
3043G>C
G1015R
COL1A2
CM110803
GGA‐CGA
Gly1024Arg
3070G>C
G1024R
COL1A2
CM070849
GGA‐AGA
Gly1027Arg
3079G>A
G1027R
COL1A2
CM070793
GGA‐GAA
Gly1027Glu
3080G>A
G1027E
COL1A2
CM070870
GGT‐CGT
Gly1036Arg
3106G>C
G1036R
COL1A2
CM070831
GGT‐GAT
Gly1039Asp
3116G>A
G1039D
COL1A2
CM070780
GGT‐AGT
Gly1042Ser
3124G>A
G1042S
COL1A2
CM070867
GGT‐AGT
Gly1051Ser
3151G>A
G1051S
COL1A2
CM070874
GGT‐TGT
Gly1057Cys
3169G>T
G1057C
COL1A2
CM900076
GGT‐GAT
Gly1066Asp
3197G>A
G1066D
COL1A2
CM070802
GGC‐GAC
Gly1078Asp
3233G>A
G1078D
COL1A2
CM070808
GGC‐GTC
Gly1081Val
3242G>T
G1081V
COL1A2
CM070846
GGT‐GTT
Gly1084Val
3251G>T
G1084V
COL1A2
CM062546
GGC‐GAC
Gly1087Asp
3260G>A
G1087D
COL1A2
CM091167
GGC‐GAC
Gly1090Asp
3269G>A
G1090D
COL1A2
CM070857
GGC‐TGC
Gly1090Cys
3268G>T
G1090C
COL1A2
CM950289
GGC‐GCC
Gly1096Ala
3287G>C
G1096A
COL1A2
CM070850
GGA‐AGA
Gly1099Arg
3295G>A
G1099R
COL1A2
CM112879
GGT‐GCT
Gly1102Ala
3305G>C
G1102A
COL1A2
CM880018
GGT‐CGT
Gly1102Arg
3304G>C
G1102R
COL1A2
CM070832
GGT‐GAT
Gly1102Asp
3305G>A
G1102D
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta II
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta II
Osteogenesis imperfecta IV
Osteogenesis imperfecta II/III
Osteogenesis imperfecta II
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta III
Osteogenesis imperfecta III
Osteogenesis imperfecta
Osteogenesis imperfecta IV
Osteogenesis imperfecta III/IV
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Venturi (2006) Clin Genet 70:131
PubMed 16879195
Pyott (2011) Genet Med 13:125
PubMed 21239989
Baldwin (1989) J Biol Chem 264:3002
PubMed 2914942
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (1993) J Biol Chem 268:2667
PubMed 8094076
Swinnen (2011) Orphanet J Rare Dis 6:88
PubMed 22206639
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pyott (2011) Genet Med 13:125
PubMed 21239989
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Byers (1990) Trends Genet 6:293
PubMed 2238087
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Faqeih (2009) Am J Med Genet A 149A:461
PubMed 19208385
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Lu (1995) Hum Mutat 5:175
PubMed 7749416
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Xu (2011) J Genet Genomics 38:149
PubMed 21530898
Wenstrup (1988) J Biol Chem 263:7734
PubMed 2897363
Marini (2007) Hum Mutat 28:209
PubMed 17078022
www.ngpd.it
Elenco mutazioni NGPD
COL1A2
CM042019
GGT‐AGT
Gly1102Ser
3304G>A
G1102S
COL1A2
CM070847
GGT‐GTT
Gly1102Val
3305G>T
G1102V
COL1A2
CM123314
GGT‐AGT
Gly1105Ser
3313G>A
G1105S
COL1A2
HM060012
GGT‐GAT
Gly1111Asp
3332G>A
G1111D
COL1A2
CM112880
TAC‐TGC
Tyr1117Cys
3350A>G
Y1117C
COL1A2
CM114192
GCT‐ACT
Ala1119Thr
3355G>A
A1119T
COL1A2
CM114194
GAC‐GCC
Asp1120Ala
3359A>C
D1120A
COL1A2
CM137633
AGA‐AAA
Arg1156Lys
3467G>A
R1156K
COL1A2
CM062560
TGT‐TAT
Cys1195Tyr
3584G>A
C1195Y
COL1A2
CM136399
CTT‐CCT
Leu1313Pro
3938T>C
L1313P
COL1A2
CM1311797
CAG‐TAG
Gln1354Term
4060C>T
Q1354*
COL1A2
CM123315
TTC‐TTA
Phe1365Leu
4095C>A
F1365L
COL1A2
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
COL2A1
CM062540
CM972870
CM001086
CM972871
CM001087
CM972872
CM001075
CM001076
CM950291
CM041750
CM076122
CM103749
CM001080
CM001081
CM001082
CM001083
CM001084
CM950294
CM001085
TAA‐CAA
GGT‐GTT
GGA‐GTA
GGT‐TGT
GGA‐AGA
GGC‐TGC
GGT‐GAT
GGT‐GTT
GGT‐GAT
GGT‐GAT
GGT‐GTT
GGT‐GAT
GGT‐GAT
GGA‐AGA
GGC‐CGC
GGA‐GAA
GGT‐GAT
GGT‐AGT
GGC‐AGC
Term1367Gln
Gly1017Val
Gly1065Val
Gly1110Cys
Gly1119Arg
Gly1143Cys
Gly453Asp
Gly453Val
Gly510Asp
Gly516Asp
Gly546Val
Gly768Asp
Gly771Asp
Gly780Arg
Gly795Arg
Gly894Glu
Gly948Asp
Gly969Ser
Gly981Ser
4099T>C
3050G>T
3194G>T
3328G>T
3355G>A
3427G>T
1358G>A
1358G>T
1529G>A
1547G>A
1637G>T
2303G>A
2312G>A
2338G>A
2383G>C
2681G>A
2843G>A
2905G>A
2941G>A
*1367Q
G1017V
G1065V
G1110C
G1119R
G1143C
G453D
G453V
G510D
G516D
G546V
G768D
G771D
G780R
G795R
G894E
G948D
G969S
G981S
COL2A1
CM001077
GGC‐AGC
Gly513Ser
1537G>A
G513S
COL2A1
CM001078
GGT‐GTT
Gly717Val
2150G>T
G717V
COL2A1
CM001079
GGT‐GCT
Gly771Ala
2312G>C
G771A
COL2A1
CM001088
ACC‐AAC
Thr1390Asn
4169C>A
T1390N
COL3A1
CM099772
GGC‐GAC
Gly603Asp
1808G>A
G603D
COL3A1
CM0910691
GGC‐GAC
Gly642Asp
1925G>A
G642D
COL3A1
CM093658
GGA‐CGA
Gly849Arg
2545G>C
G849R
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta I
Osteogenesis imperfecta II
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta IV
Osteogenesis imperfecta
Osteogenesis imperfecta I
Osteogenesis imperfecta
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis 2
Achondrogenesis II‐
hypochondrogenesis
Achondrogenesis II‐
hypochondrogenesis
Achondrogenesis II‐
hypochondrogenesis
Achondrogenesis II‐
hypochondrogenesis
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Hartikka (2004) Hum Mutat 24:147
PubMed 15241796
Marini (2007) Hum Mutat 28:209
PubMed 17078022
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Tinkle (2006) Hum Genet 119:677
Source: Online submission
Xu (2011) J Genet Genomics 38:149
PubMed 21530898
Lindahl (2011) Hum Mutat 32:598
PubMed 21344539
Lindahl (2011) Hum Mutat 32:598
PubMed 21344539
Adur (2013) PLoS One 8:e69186
PubMed 23869235
Pollitt (2006) Hum Mutat 27:716
PubMed 16786509
Sule (2013) Osteoporos Int 24:2253
PubMed 23443412
Reuter (2013) Eur J Med Genet 56:669
PubMed 24140640
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
Venturi (2006) Clin Genet 70:131
Kuivaniemi (1997) Hum Mutat 9:300
Korkko (2000) Am J Med Genet 92:95
Kuivaniemi (1997) Hum Mutat 9:300
Korkko (2000) Am J Med Genet 92:95
Kuivaniemi (1997) Hum Mutat 9:300
Korkko (2000) Am J Med Genet 92:95
Korkko (2000) Am J Med Genet 92:95
Bonaventure (1995) Biochem J 307:823
Faivre (2004) Am J Med Genet 126A:308
Forzano (2007) Am J Med Genet A 143A:2815
Comstock (2010) Am J Med Genet A 152A:1822
Korkko (2000) Am J Med Genet 92:95
Korkko (2000) Am J Med Genet 92:95
Korkko (2000) Am J Med Genet 92:95
Korkko (2000) Am J Med Genet 92:95
Korkko (2000) Am J Med Genet 92:95
Chan (1995) J Biol Chem 270:1747
Korkko (2000) Am J Med Genet 92:95
PubMed 16879195
PubMed 9101290
PubMed 10797431
PubMed 9101290
PubMed 10797431
PubMed 9101290
PubMed 10797431
PubMed 10797431
PubMed 7741714
PubMed 15054848
PubMed 17994563
PubMed 20583175
PubMed 10797431
PubMed 10797431
PubMed 10797431
PubMed 10797431
PubMed 10797431
PubMed 7829510
PubMed 10797431
Mortier (2000) J Med Genet 37:263
PubMed 10745044
Mortier (2000) J Med Genet 37:263
PubMed 10745044
Mortier (2000) J Med Genet 37:263
PubMed 10745044
Mortier (2000) J Med Genet 37:263
Matsushita (2009) Nihon Kokyuki Gakkai Zasshi 47:704
PubMed 10745044
Ishiguro (2009) Intern Med 48:717
PubMed 19420820
van Bon (2009) Ann Vasc Surg 23:256.e1
PubMed 18804950
PubMed 19764513
www.ngpd.it
Elenco mutazioni NGPD
COL3A1
CM066013
GGT‐TGT
Gly978Cys
2932G>T
G978C
COL3A1
CM1314431
GGT‐GAT
Gly999Asp
2996G>A
G999D
COL3A1
CM940305
GGC‐AGC
Gly804Ser
2410G>A
G804S
COL3A1
CM143062
GGT‐GCT
Gly183Ala
548G>C
G183A
COL3A1
CM000313
GGT‐GAT
Gly183Asp
548G>A
G183D
COL3A1
CM970359
GGT‐TGT
Gly183Cys
547G>T
G183C
COL3A1
CM000314
GGT‐AGT
Gly183Ser
547G>A
G183S
COL3A1
CM000315
GGT‐GTT
Gly192Val
575G>T
G192V
COL3A1
CM001089
GGA‐CGA
Gly201Arg
601G>C
G201R
COL3A1
CM001971
GGT‐GAT
Gly204Asp
611G>A
G204D
COL3A1
CM000316
GGT‐AGT
Gly204Ser
610G>A
G204S
COL3A1
CM001972
GGT‐GAT
Gly210Asp
629G>A
G210D
COL3A1
CM000317
GGT‐TGT
Gly219Cys
655G>T
G219C
COL3A1
CM143065
GGT‐GTT
Gly222Val
665G>T
G222V
COL3A1
CM000318
GGT‐GTT
Gly225Val
674G>T
G225V
COL3A1
CM970360
GGA‐GAA
Gly228Glu
683G>A
G228E
COL3A1
CM001090
GGA‐CGA
Gly240Arg
718G>C
G240R
COL3A1
CM000319
GGA‐GTA
Gly243Val
728G>T
G243V
COL3A1
CM000320
GGT‐GAT
Gly249Asp
746G>A
G249D
COL3A1
CM000321
GGT‐GTT
Gly249Val
746G>T
G249V
COL3A1
CM000322
GGT‐CGT
Gly252Arg
754G>C
G252R
COL3A1
CM000323
GGT‐GAT
Gly252Asp
755G>A
G252D
COL3A1
CM000324
GGT‐GTT
Gly252Val
755G>T
G252V
COL3A1
CM000325
GGG‐GTG
Gly255Val
764G>T
G255V
COL3A1
CM001973
GGA‐AGA
Gly264Arg
790G>A
G264R
COL3A1
CM000326
GGC‐GTC
Gly267Val
800G>T
G267V
COL3A1
CM030814
GGA‐AGA
Gly297Arg
889G>A
G297R
COL3A1
CM000327
GGT‐GTT
Gly321Val
962G>T
G321V
COL3A1
CM067366
GGT‐AGT
Gly324Ser
970G>A
G324S
COL3A1
CM001974
GGC‐GAC
Gly327Asp
980G>A
G327D
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome III
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Demirogullari (2006) J Pediatr Surg 41:e27
PubMed 16863833
Sa (2013) Surg Today 43:1467
PubMed 23052746
Narcisi (1994) Hum Mol Genet 3:1617
PubMed 7833919
Morissette (2014) Circ Cardiovasc Genet 7:80
PubMed 24399159
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Smith (1997) J Invest Dermatol 108:241
PubMed 9036918
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Giunta (2000) Hum Mutat 16:176
PubMed 10923041
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Giunta (2000) Hum Mutat 16:176
PubMed 10923041
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Morissette (2014) Circ Cardiovasc Genet 7:80
PubMed 24399159
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Smith (1997) J Invest Dermatol 108:241
PubMed 9036918
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Giunta (2000) Hum Mutat 16:176
PubMed 10923041
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Kroes (2003) Clin Genet 63:224
PubMed 12694234
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Martin (2006) Stroke 37:2924
PubMed 17053184
Giunta (2000) Hum Mutat 16:176
PubMed 10923041
www.ngpd.it
Elenco mutazioni NGPD
COL3A1
CM001091
GGA‐AGA
Gly345Arg
1033G>A
G345R
COL3A1
CM072957
GGG‐TGG
Gly387Trp
1159G>T
G387W
COL3A1
CM001092
GGA‐AGA
Gly417Arg
1249G>A
G417R
COL3A1
CM001094
GGA‐AGA
Gly444Arg
1330G>A
G444R
COL3A1
CM001093
GGA‐CGA
Gly444Arg
1330G>C
G444R
COL3A1
CM023620
GGT‐GAT
Gly453Asp
1358G>A
G453D
COL3A1
CM000328
GGG‐GAG
Gly489Glu
1466G>A
G489E
COL3A1
CM001095
GGA‐AGA
Gly501Arg
1501G>A
G501R
COL3A1
CM000329
GGA‐GAA
Gly519Glu
1556G>A
G519E
COL3A1
CM001096
GGA‐AGA
Gly540Arg
1618G>A
G540R
COL3A1
CM000330
GGG‐GAG
Gly549Glu
1646G>A
G549E
COL3A1
CM000331
GGG‐GAG
Gly552Glu
1655G>A
G552E
COL3A1
CM960331
GGG‐GAG
Gly567Glu
1700G>A
G567E
COL3A1
CM970361
GGT‐AGT
Gly582Ser
1744G>A
G582S
COL3A1
CM000332
GGT‐GAT
Gly588Asp
1763G>A
G588D
COL3A1
CM072956
GGA‐GAA
Gly615Glu
1844G>A
G615E
COL3A1
CM0910090
GGG‐GAG
Gly621Glu
1862G>A
G621E
COL3A1
CM000333
GGT‐CGT
Gly636Arg
1906G>C
G636R
COL3A1
CM1110875
GGA‐GTA
Gly639Val
1916G>T
G639V
COL3A1
CM000334
GGG‐GAG
Gly657Glu
1970G>A
G657E
COL3A1
CM000335
GGT‐GAT
Gly660Asp
1979G>A
G660D
COL3A1
CM960332
GGT‐GAT
Gly666Asp
1997G>A
G666D
COL3A1
CM000336
GGT‐CGT
Gly699Arg
2095G>C
G699R
COL3A1
CM143068
GGT‐GAT
Gly708Asp
2123G>A
G708D
COL3A1
CM066763
GGT‐GTT
Gly708Val
2123G>T
G708V
COL3A1
CM980397
GGA‐AGA
Gly726Arg
2176G>A
G726R
COL3A1
CM077242
GGA‐GTA
Gly732Val
2195G>T
G732V
COL3A1
CM990383
GGT‐AGT
Gly738Ser
2212G>A
G738S
COL3A1
CM000337
GGT‐GTT
Gly738Val
2213G>T
G738V
COL3A1
CM143064
GGT‐AGT
Gly741Ser
2221G>A
G741S
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Watanabe (2007) Circ J 71:261
PubMed 17251678
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Hassan (2002) Mayo Clin Proc 77:861
PubMed 12173720
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Mackay (1996) Clin Genet 49:286
PubMed 8884076
Anderson (1997) Hum Mutat 9:62
PubMed 8990011
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Watanabe (2007) Circ J 71:261
PubMed 17251678
Barboi (2009) J Clin Neuromuscul Dis 11:81
PubMed 19955990
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Brightwell (2011) Eur J Vasc Endovasc Surg 42:696
PubMed 21782484
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
McGrory (1996) Hum Mutat 7:59
PubMed 8664902
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Morissette (2014) Circ Cardiovasc Genet 7:80
PubMed 24399159
Nanayakkara (2006) Neth J Med 64:374
PubMed 17122455
Bateman (1998) Hum Mutat S1:S257
PubMed 9452103
Yang (2007) J Korean Med Sci 22:698
PubMed 17728513
Gilchrist (1999) Am J Med Genet 82:305
PubMed 10051163
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Morissette (2014) Circ Cardiovasc Genet 7:80
PubMed 24399159
www.ngpd.it
Elenco mutazioni NGPD
COL3A1
CM000338
GGT‐GTT
Gly744Val
2231G>T
G744V
COL3A1
CM940304
GGG‐GAG
Gly756Glu
2267G>A
G756E
COL3A1
CM143066
GGT‐CGT
Gly762Arg
2284G>C
G762R
COL3A1
CM143067
GGT‐GAT
Gly762Asp
2285G>A
G762D
COL3A1
CM960333
GGT‐TGT
Gly762Cys
2284G>T
G762C
COL3A1
CM132567
GGT‐GCT
Gly822Ala
2465G>C
G822A
COL3A1
CM930165
GGG‐AGG
Gly828Arg
2482G>A
G828R
COL3A1
CM000339
GGG‐TGG
Gly828Trp
2482G>T
G828W
COL3A1
CM105197
GGA‐GAA
Gly843Glu
2528G>A
G843E
COL3A1
CM000340
GGT‐TGT
Gly852Cys
2554G>T
G852C
COL3A1
CM000341
GGT‐GTT
Gly879Val
2636G>T
G879V
COL3A1
CM000342
GGT‐GAT
Gly882Asp
2645G>A
G882D
COL3A1
CM022338
GGT‐GAT
Gly894Asp
2681G>A
G894D
COL3A1
CM000343
GGC‐GAC
Gly900Asp
2699G>A
G900D
COL3A1
CM000344
GGG‐GAG
Gly903Glu
2708G>A
G903E
COL3A1
CM950299
GGT‐GAT
Gly909Asp
2726G>A
G909D
COL3A1
CM000345
GGT‐GTT
Gly909Val
2726G>T
G909V
COL3A1
CM1313692
GGT‐GAT
Gly912Asp
2735G>A
G912D
COL3A1
CM000346
GGA‐GAA
Gly918Glu
2753G>A
G918E
COL3A1
CM000347
GGT‐TGT
Gly924Cys
2770G>T
G924C
COL3A1
CM970362
GGT‐CGT
Gly936Arg
2806G>C
G936R
COL3A1
CM931215
GGT‐AGT
Gly936Ser
2806G>A
G936S
COL3A1
CM950300
GGC‐GAC
Gly939Asp
2816G>A
G939D
COL3A1
CM000348
GGA‐GAA
Gly942Glu
2825G>A
G942E
COL3A1
CM890038
GGT‐AGT
Gly957Ser
2869G>A
G957S
COL3A1
CM950301
GGA‐GTA
Gly960Val
2879G>T
G960V
COL3A1
CM000349
GGT‐GTT
Gly966Val
2897G>T
G966V
COL3A1
CM000350
GGC‐GCC
Gly972Ala
2915G>C
G972A
COL3A1
CM000351
GGA‐GAA
Gly996Glu
2987G>A
G996E
COL3A1
CM000352
GGT‐CGT
Gly999Arg
2995G>C
G999R
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Madhatheri (1994) Hum Mol Genet 3:511
PubMed 7912131
Morissette (2014) Circ Cardiovasc Genet 7:80
PubMed 24399159
Morissette (2014) Circ Cardiovasc Genet 7:80
PubMed 24399159
Mackay (1996) Clin Genet 49:286
PubMed 8884076
Eder (2013) Exp Dermatol 22:231
PubMed 23489429
Richards (1993) J Med Genet 30:690
PubMed 8411057
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Sadakata (2010) Intern Med 49:1797
PubMed 20720362
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Watanabe (2002) Eur Respir J 19:195
PubMed 11843319
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Johnson (1995) Hum Mutat 6:336
PubMed 8680408
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Girardin (2013) Ann Dermatol Venereol 140:296
PubMed 23567233
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Smith (1997) J Invest Dermatol 108:241
De Paepe (1993) COL3A1 LSDB entry Meeting abstract:
PubMed 9036918
Johnson (1995) Hum Mutat 6:336
PubMed 8680408
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Tromp (1989) J Biol Chem 264:1349
PubMed 2492273
Tromp (1995) Hum Mutat 5:179
PubMed 7749417
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Source: LSDB
www.ngpd.it
Elenco mutazioni NGPD
COL3A1
CM000353
GGA‐GAA
Gly1011Glu
3032G>A
G1011E
COL3A1
CM920209
GGA‐GAA
Gly1014Glu
3041G>A
G1014E
COL3A1
CM000354
GGT‐GTT
Gly1032Val
3095G>T
G1032V
COL3A1
CM000355
GGT‐TGT
Gly1035Cys
3103G>T
G1035C
COL3A1
CM014170
GGC‐GAC
Gly1044Asp
3131G>A
G1044D
COL3A1
CM890039
GGC‐GAC
Gly1050Asp
3149G>A
G1050D
COL3A1
CM000356
GGC‐GTC
Gly1050Val
3149G>T
G1050V
COL3A1
CM000357
GGC‐GTC
Gly1071Val
3212G>T
G1071V
COL3A1
CM910094
GGT‐GTT
Gly1077Val
3230G>T
G1077V
COL3A1
CM115013
GGT‐TGT
Gly1086Cys
3256G>T
G1086C
COL3A1
CM000358
GGC‐GAC
Gly1089Asp
3266G>A
G1089D
COL3A1
CM001975
GGT‐GAT
Gly1098Asp
3293G>A
G1098D
COL3A1
CM000359
GGT‐GTT
Gly1098Val
3293G>T
G1098V
COL3A1
CM960334
GGA‐GAA
Gly1101Glu
3302G>A
G1101E
COL3A1
CM942089
GGC‐GCC
Gly1104Ala
3311G>C
G1104A
COL3A1
CM000360
GGA‐GTA
Gly1161Val
3482G>T
G1161V
COL3A1
CM001097
GGG‐AGG
Gly1164Arg
3490G>A
G1164R
COL3A1
CM001098
GGG‐CGG
Gly1164Arg
3490G>C
G1164R
COL3A1
CM000361
GGG‐GAG
Gly1164Glu
3491G>A
G1164E
COL3A1
CM143063
GGT‐TGT
Gly1167Cys
3499G>T
G1167C
COL3A1
CM950302
GGT‐GTT
Gly1167Val
3500G>T
G1167V
COL3A1
CM950303
GGT‐GAT
Gly1170Asp
3509G>A
G1170D
COL3A1
CM000362
GGT‐GTT
Gly1170Val
3509G>T
G1170V
COL3A1
CM920210
GGA‐GAA
Gly1173Glu
3518G>A
G1173E
COL3A1
CM931216
GGC‐AGC
Gly1176Ser
3526G>A
G1176S
COL3A1
CM940306
GGC‐GTC
Gly1176Val
3527G>T
G1176V
COL3A1
CM970363
GGC‐CGC
Gly1179Arg
3535G>C
G1179R
COL3A1
CM000363
GGG‐GAG
Gly1182Glu
3545G>A
G1182E
COL3A1
CM920211
GGC‐GAC
Gly1185Asp
3554G>A
G1185D
COL3A1
CM970364
GGC‐GTC
Gly1185Val
3554G>T
G1185V
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Ehlers‐Danlos syndrome IV
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Richards (1992) Hum Genet 89:414
PubMed 1352273
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Nishiyama (2001) J Intern Med 249:103
PubMed 11168790
Tromp (1989) J Biol Chem 264:19313
PubMed 2808425
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Richards (1991) J Med Genet 28:458
PubMed 1895316
Rana (2011) J Med Case Rep 5:229
PubMed 21699676
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Giunta (2000) Hum Mutat 16:176
PubMed 10923041
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
McGrory (1996) Clin Genet 50:442
Goldstein (1994) COL3A1 LSDB entry Meeting abstract:
PubMed 9147870
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Morissette (2014) Circ Cardiovasc Genet 7:80
PubMed 24399159
Johnson (1995) Hum Mutat 6:336
PubMed 8680408
Johnson (1995) Hum Mutat 6:336
PubMed 8680408
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Johnson (1992) J Inherit Metab Dis 15:426
PubMed 1357232
Leroy (1993) COL3A1 LSDB entry Meeting abstract:
Source: LSDB
Nuytinck (1994) Hum Mutat 3:268
PubMed 8019562
Smith (1997) J Invest Dermatol 108:241
PubMed 9036918
Pepin (2000) N Engl J Med 342:673
PubMed 10706896
Kontusaari (1992) Am J Hum Genet 51:497
PubMed 1496983
Smith (1997) J Invest Dermatol 108:241
PubMed 9036918
Source: LSDB
www.ngpd.it
Elenco mutazioni NGPD
COL3A1
CM001099
GGA‐AGA
Gly1188Arg
3562G>A
G1188R
COL3A1
CM930166
GGA‐GAA
Gly1188Glu
3563G>A
G1188E
COL3A1
CM013250
CGA‐TGA
Arg1432Term
4294C>T
R1432*
COL3A1
CM143069
CCT‐TCT
Pro1440Ser
4318C>T
P1440S
COL3A1
CM116424
GAA‐TAA
Glu979Term
2935G>T
E979*
COL3A1
CM116425
CGA‐TGA
Arg1024Term
3070C>T
R1024*
COL3A1
CM116426
CGA‐TGA
Arg1166Term
3496C>T
R1166*
COL3A1
CM116427
CAA‐TAA
Gln1283Term
3847C>T
Q1283*
COL3A1
CM111230
GGC‐GAC
Gly180Asp
539G>A
G180D
COL3A1
CM119017
GGT‐GAT
Gly225Asp
674G>A
G225D
COL3A1
CM119018
GGA‐AGA
Gly237Arg
709G>A
G237R
COL3A1
CM113076
CGA‐CAA
Arg271Gln
812G>A
R271Q
COL3A1
CM119019
GGT‐GAT
Gly279Asp
836G>A
G279D
COL3A1
CM105919
GGC‐GAC
Gly384Asp
1151G>A
G384D
COL3A1
CM113074
GGT‐AGT
Gly420Ser
1258G>A
G420S
COL3A1
CM119020
GGA‐AGA
Gly492Arg
1474G>A
G492R
COL3A1
CM123161
GGA‐GCA
Gly501Ala
1502G>C
G501A
COL3A1
CM105920
GGT‐GAT
Gly504Asp
1511G>A
G504D
COL3A1
CM119025
CCC‐CTC
Pro517Leu
1550C>T
P517L
COL3A1
CM105921
GGT‐GAT
Gly573Asp
1718G>A
G573D
COL3A1
CM119021
GGT‐GAT
Gly612Asp
1835G>A
G612D
Ehlers‐Danlos syndrome IV
Pope (1996) Br J Dermatol 135:163
Ehlers‐Danlos syndrome IV
Narcisi (1993) Am J Med Genet 46:278
Ehlers‐Danlos syndrome IV
Schwarze (2001) Am J Hum Genet 69:989
Ehlers‐Danlos syndrome IV
Morissette (2014) Circ Cardiovasc Genet 7:80
Ehlers‐Danlos syndrome IV, vascular‐
type
Leistritz (2011) Genet Med 13:717
Ehlers‐Danlos syndrome IV, vascular‐
type
Leistritz (2011) Genet Med 13:717
Ehlers‐Danlos syndrome IV, vascular‐
type
Leistritz (2011) Genet Med 13:717
Ehlers‐Danlos syndrome IV, vascular‐
type
Leistritz (2011) Genet Med 13:717
Ehlers‐Danlos syndrome, vascular‐
type
Naing (2011) Biochem Biophys Res Commun 405:368
Ehlers‐Danlos syndrome, vascular‐
type
Drera (2011) J Dermatol Sci 64:237
Ehlers‐Danlos syndrome, vascular‐
type
Drera (2011) J Dermatol Sci 64:237
Ehlers‐Danlos syndrome, vascular‐
type
Pickup (2011) Forensic Sci Med Pathol 7:192
Ehlers‐Danlos syndrome, vascular‐
type
Drera (2011) J Dermatol Sci 64:237
Ehlers‐Danlos syndrome, vascular‐
type
Shimaoka (2010) Br J Dermatol 163:704
Ehlers‐Danlos syndrome, vascular‐
type
Pickup (2011) Forensic Sci Med Pathol 7:192
Ehlers‐Danlos syndrome, vascular‐
type
Drera (2011) J Dermatol Sci 64:237
Ehlers‐Danlos syndrome, vascular‐
type
Müller (2012) FASEB J 26:668
Ehlers‐Danlos syndrome, vascular‐
type
Shimaoka (2010) Br J Dermatol 163:704
Ehlers‐Danlos syndrome, vascular‐
type
Drera (2011) J Dermatol Sci 64:237
Ehlers‐Danlos syndrome, vascular‐
type
Shimaoka (2010) Br J Dermatol 163:704
Ehlers‐Danlos syndrome, vascular‐
type
Drera (2011) J Dermatol Sci 64:237
PubMed 8881656
PubMed 8098182
PubMed 11577371
PubMed 24399159
PubMed 21637106
PubMed 21637106
PubMed 21637106
PubMed 21637106
PubMed 21219851
PubMed 22019127
PubMed 22019127
PubMed 21086191
PubMed 22019127
PubMed 20518783
PubMed 21086191
PubMed 22019127
PubMed 22038052
PubMed 20518783
PubMed 22019127
PubMed 20518783
PubMed 22019127
www.ngpd.it
Elenco mutazioni NGPD
COL3A1
CM0910897
GGT‐GAT
Gly663Asp
1988G>A
G663D
COL3A1
CM119022
GGA‐AGA
Gly693Arg
2077G>A
G693R
COL3A1
CM111231
GGT‐GAT
Gly717Asp
2150G>A
G717D
COL3A1
CM119023
GGA‐AGA
Gly732Arg
2194G>A
G732R
COL3A1
CM105922
GGA‐GAA
Gly732Glu
2195G>A
G732E
COL3A1
CM130797
GGC‐GTC
Gly804Val
2411G>T
G804V
COL3A1
CM123162
CAA‐TAA
Gln857Term
2569C>T
Q857*
COL3A1
CM119024
GGT‐GCT
Gly912Ala
2735G>C
G912A
COL3A1
CM113075
GGA‐GAA
Gly930Glu
2789G>A
G930E
COL3A1
CM119026
GGA‐AGA
Gly933Arg
2797G>A
G933R
COL3A1
CM119027
GGA‐AGA
Gly996Arg
2986G>A
G996R
COL3A1
CM111228
CAG‐TAG
Gln998Term
2992C>T
Q998*
COL3A1
CM111233
GGT‐AGT
Gly999Ser
2995G>A
G999S
COL3A1
CM1211089
GGA‐GAA
Gly1143Glu
3428G>A
G1143E
COL3A1
CM119028
GGT‐AGT
Gly1170Ser
3508G>A
G1170S
COL3A1
CM113866
GGC‐GAC
Gly1176Asp
3527G>A
G1176D
COL3A1
CM119029
GGA‐GTA
Gly1188Val
3563G>T
G1188V
COL3A1
CM113077
AAA‐AGA
Lys1313Arg
3938A>G
K1313R
COL4A1
COL4A5
COL4A5
COL4A5
COL4A5
CM113805
CM960401
CM970369
CM010190
CM010191
ATG‐GTG
CTG‐CGG
CGA‐CAA
GGG‐AGG
GGA‐CGA
Met1016Val
Leu1649Arg
Arg1677Gln
Gly192Arg
Gly292Arg
3046A>G
4946T>G
5030G>A
574G>A
874G>C
M1016V
L1649R
R1677Q
G192R
G292R
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Ehlers‐Danlos syndrome, vascular‐
type
Walker‐Warburg syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Nakamura (2009) J Cardiol 53:458
PubMed 19477391
Drera (2011) J Dermatol Sci 64:237
PubMed 22019127
Naing (2011) Biochem Biophys Res Commun 405:368
PubMed 21219851
Drera (2011) J Dermatol Sci 64:237
PubMed 22019127
Shimaoka (2010) Br J Dermatol 163:704
PubMed 20518783
Kashizaki (2013) J Med Case Rep 7:35
PubMed 23374456
Müller (2012) FASEB J 26:668
PubMed 22038052
Drera (2011) J Dermatol Sci 64:237
PubMed 22019127
Pickup (2011) Forensic Sci Med Pathol 7:192
PubMed 21086191
Drera (2011) J Dermatol Sci 64:237
PubMed 22019127
Drera (2011) J Dermatol Sci 64:237
PubMed 22019127
Naing (2011) Biochem Biophys Res Commun 405:368
PubMed 21219851
Naing (2011) Biochem Biophys Res Commun 405:368
PubMed 21219851
Masuno (2012) Congenit Anom (Kyoto) 52:207
PubMed 23181496
Drera (2011) J Dermatol Sci 64:237
PubMed 22019127
Morais (2011) Dermatol Online J 17:1
PubMed 21549076
Drera (2011) J Dermatol Sci 64:237
PubMed 22019127
Pickup (2011) Forensic Sci Med Pathol 7:192
PubMed 21086191
Labelle‐Dumais (2011) PLoS Genet 7:e1002062
Barker (1996) Am J Hum Genet 58:1157
Barker (1997) Hum Genet 99:681
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
PubMed 21625620
PubMed 8651292
PubMed 9150741
PubMed 11223851
PubMed 11223851
www.ngpd.it
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
Elenco mutazioni NGPD
CM010192
CM010193
CM010194
CM010195
CM010196
CM010197
CM010198
CM010199
CM010200
CM010201
CM109087
CM107314
CM107325
CM109091
CM109093
CM107331
CM109092
CM109099
CM107321
CM109088
CM107324
CM107333
CM107330
CM107328
CM107322
CM107326
CM109094
CM107318
CM109100
CM107320
CM107308
CM107319
CM107315
CM107329
CM107307
CM107309
CM107311
CM107313
CM107312
CM107327
CM107310
CM109090
CM107306
CM107332
CM107316
CM107317
CM109089
CM107323
CM950306
CM950307
CM950308
CM950309
CM950310
GGC‐GAC
GGT‐CGT
GGT‐GTT
GGC‐GAC
GGA‐GAA
ATG‐GTG
GGT‐GTT
GGT‐GCT
GGT‐GAT
CGA‐CCA
GGA‐AGA
GGT‐GAT
GGT‐GAT
GGT‐GAT
GGA‐CGA
GGG‐GAG
TAC‐TAG
GGG‐AGG
AAA‐TAA
GGG‐AGG
GGT‐AGT
GGA‐GAA
GGT‐GAT
GGT‐GAT
GGC‐AGC
CAG‐TAG
GGA‐CGA
GGA‐GAA
GGA‐AGA
GGT‐GCT
GGT‐CGT
GGT‐CGT
GGT‐CGT
AGT‐GGT
CAG‐TAG
GGT‐GTT
GGA‐GTA
GGA‐GAA
GGT‐AGT
CAG‐TAG
GGT‐GTT
CAG‐CAC
GGA‐TGA
CAA‐TAA
TGT‐CGT
CCC‐CTC
TGT‐AGT
CGA‐TGA
GGA‐GAA
GGT‐GTT
GGT‐GCT
GGT‐GTT
GGG‐AGG
Gly295Asp
Gly558Arg
Gly603Val
Gly629Asp
Gly722Glu
Met898Val
Gly1006Val
Gly1066Ala
Gly1244Asp
Arg1677Pro
Gly96Arg
Gly144Asp
Gly153Asp
Gly156Asp
Gly180Arg
Gly216Glu
Tyr320Term
Gly362Arg
Lys408Term
Gly432Arg
Gly475Ser
Gly533Glu
Gly548Asp
Gly558Asp
Gly576Ser
Gln580Term
Gly719Arg
Gly763Glu
Gly769Arg
Gly772Ala
Gly834Arg
Gly860Arg
Gly887Arg
Ser916Gly
Gln928Term
Gly1069Val
Gly1116Val
Gly1196Glu
Gly1205Ser
Gln1234Term
Gly1241Val
Gln1308His
Gly1391Term
Gln1501Term
Cys1564Arg
Pro1584Leu
Cys1632Ser
Arg1674Term
Gly400Glu
Gly406Val
Gly638Ala
Gly638Val
Gly653Arg
884G>A
1672G>C
1808G>T
1886G>A
2165G>A
2692A>G
3017G>T
3197G>C
3731G>A
5030G>C
286G>A
431G>A
458G>A
467G>A
538G>C
647G>A
960C>G
1084G>A
1222A>T
1294G>A
1423G>A
1598G>A
1643G>A
1673G>A
1726G>A
1738C>T
2155G>C
2288G>A
2305G>A
2315G>C
2500G>C
2578G>C
2659G>C
2746A>G
2782C>T
3206G>T
3347G>T
3587G>A
3613G>A
3700C>T
3722G>T
3924G>C
4171G>T
4501C>T
4690T>C
4751C>T
4894T>A
5020C>T
1199G>A
1217G>T
1913G>C
1913G>T
1957G>A
G295D
G558R
G603V
G629D
G722E
M898V
G1006V
G1066A
G1244D
R1677P
G96R
G144D
G153D
G156D
G180R
G216E
Y320*
G362R
K408*
G432R
G475S
G533E
G548D
G558D
G576S
Q580*
G719R
G763E
G769R
G772A
G834R
G860R
G887R
S916G
Q928*
G1069V
G1116V
G1196E
G1205S
Q1234*
G1241V
Q1308H
G1391*
Q1501*
C1564R
P1584L
C1632S
R1674*
G400E
G406V
G638A
G638V
G653R
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
Barker (2001) Am J Med Genet 98:148
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Bekheirnia (2010) J Am Soc Nephrol 21:876
Boye (1995) Hum Mutat 5:197
Boye (1995) Hum Mutat 5:197
Boye (1995) Hum Mutat 5:197
Boye (1995) Hum Mutat 5:197
Boye (1995) Hum Mutat 5:197
PubMed 11223851
PubMed 11223851
PubMed 11223851
PubMed 11223851
PubMed 11223851
PubMed 11223851
PubMed 11223851
PubMed 11223851
PubMed 11223851
PubMed 11223851
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 20378821
PubMed 7599631
PubMed 7599631
PubMed 7599631
PubMed 7599631
PubMed 7599631
www.ngpd.it
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
Elenco mutazioni NGPD
CM950311
CM950312
CM950313
CM950314
CM1310322
CM003664
CM003665
CM003666
CM003667
CM003668
CM003669
CM003670
CM101184
CM992619
CM992620
CM120795
CM148127
CM148128
CM148129
CM148130
CM148131
CM148132
CM148133
CM148134
CM148135
CM148136
CM148138
CM950305
CM950315
CM142202
CM115560
CM115564
CM115524
CM115525
CM115527
CM115528
CM115529
CM115530
CM115533
CM115534
CM115536
CM115538
CM115544
CM115545
CM115547
CM115551
CM115553
CM115558
CM145034
CM145035
CM145036
CM145024
CM145037
GGA‐AGA
GGA‐AGA
GGT‐CGT
GGT‐TGT
GGG‐GAG
GGT‐CGT
CCT‐TCT
GGA‐GTA
GGA‐GAA
GGT‐GAT
CAA‐TAA
CGT‐CAT
GGA‐AGA
GGA‐TGA
GGA‐AGA
GAA‐TAA
ATG‐AAG
GGG‐GTG
GGT‐AGT
GGT‐GTT
GGA‐AGA
GGT‐GTT
GGG‐AGG
GGA‐GAA
GGG‐AGG
GGT‐CGT
TGT‐TGG
GGT‐GTT
CGC‐TGC
GGA‐GAA
GGG‐GAG
GGT‐GTT
GGT‐GAT
GGG‐GAG
GGA‐GTA
GGT‐AGT
GGT‐CGT
CCA‐CTA
GGT‐GAT
GGT‐GAT
GGA‐AGA
GGT‐AGT
GGT‐GAT
GGA‐GAA
GGT‐AGT
GGA‐GTA
CAG‐TAG
AGT‐GGT
GGT‐AGT
GGT‐GAT
GGA‐GAA
GGT‐AGT
GGT‐GAT
Gly796Arg
Gly869Arg
Gly872Arg
Gly1241Cys
Gly1161Glu
Gly319Arg
Pro739Ser
Gly902Val
Gly911Glu
Gly1229Asp
Gln1302Term
Arg1511His
Gly908Arg
Gly5Term
Gly822Arg
Glu228Term
Met1Lys
Gly51Val
Gly138Ser
Gly233Val
Gly359Arg
Gly621Val
Gly693Arg
Gly746Glu
Gly828Arg
Gly1241Arg
Cys1632Trp
Gly289Val
Arg1422Cys
Gly123Glu
Gly192Glu
Gly319Val
Gly406Asp
Gly432Glu
Gly527Val
Gly545Ser
Gly603Arg
Pro628Leu
Gly775Asp
Gly784Asp
Gly840Arg
Gly893Ser
Gly1080Asp
Gly1089Glu
Gly1229Ser
Gly1409Val
Gln1558Term
Ser1659Gly
Gly227Ser
Gly298Asp
Gly310Glu
Gly334Ser
Gly509Asp
2386G>A
2605G>A
2614G>C
3721G>T
3482G>A
955G>C
2215C>T
2705G>T
2732G>A
3686G>A
3904C>T
4532G>A
2722G>A
13G>T
2464G>A
682G>T
2T>A
152G>T
412G>A
698G>T
1075G>A
1862G>T
2077G>A
2237G>A
2482G>A
3721G>C
4896T>G
866G>T
4264C>T
368G>A
575G>A
956G>T
1217G>A
1295G>A
1580G>T
1633G>A
1807G>C
1883C>T
2324G>A
2351G>A
2518G>A
2677G>A
3239G>A
3266G>A
3685G>A
4226G>T
4672C>T
4975A>G
679G>A
893G>A
929G>A
1000G>A
1526G>A
G796R
G869R
G872R
G1241C
G1161E
G319R
P739S
G902V
G911E
G1229D
Q1302*
R1511H
G908R
G5*
G822R
E228*
M1K
G51V
G138S
G233V
G359R
G621V
G693R
G746E
G828R
G1241R
C1632W
G289V
R1422C
G123E
G192E
G319V
G406D
G432E
G527V
G545S
G603R
P628L
G775D
G784D
G840R
G893S
G1080D
G1089E
G1229S
G1409V
Q1558*
S1659G
G227S
G298D
G310E
G334S
G509D
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Boye (1995) Hum Mutat 5:197
Boye (1995) Hum Mutat 5:197
Boye (1995) Hum Mutat 5:197
Boye (1995) Hum Mutat 5:197
Chatterjee (2013) PLoS One 8:e76360
Cheong (2000) Pediatr Nephrol 14:117
Cheong (2000) Pediatr Nephrol 14:117
Cheong (2000) Pediatr Nephrol 14:117
Cheong (2000) Pediatr Nephrol 14:117
Cheong (2000) Pediatr Nephrol 14:117
Cheong (2000) Pediatr Nephrol 14:117
Cheong (2000) Pediatr Nephrol 14:117
Colville (2009) Br J Ophthalmol 93:383
Cruz‐Robles (1999) Clin Genet 56:242
Cruz‐Robles (1999) Clin Genet 56:242
Demosthenous (2012) Clin Genet 81:240
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Fallerini (2014) Clin Genet 86:252
Guo (1995) J Clin Invest 95:1832
Guo (1995) J Clin Invest 95:1832
Guo (2014) Mol Biol Rep epub:epub
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hanson (2011) Clin J Am Soc Nephrol 6:198
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
PubMed 7599631
PubMed 7599631
PubMed 7599631
PubMed 7599631
PubMed 24130771
PubMed 10684360
PubMed 10684360
PubMed 10684360
PubMed 10684360
PubMed 10684360
PubMed 10684360
PubMed 10684360
PubMed 19019929
PubMed 10563487
PubMed 10563487
PubMed 21332469
PubMed 24033287
PubMed 24033287
PubMed 24033287
PubMed 24033287
PubMed 24033287
PubMed 24033287
PubMed 24033287
PubMed 24033287
PubMed 24033287
PubMed 24033287
PubMed 24033287
PubMed 7706490
PubMed 7706490
PubMed 24522658
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 20884774
PubMed 24304881
PubMed 24304881
PubMed 24304881
PubMed 24304881
PubMed 24304881
www.ngpd.it
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
Elenco mutazioni NGPD
CM145028
CM145025
CM145030
CM145029
CM145038
CM145027
CM145026
CM960337
CM960341
CM960346
CM960347
CM960350
CM012340
CM012341
CM012342
CM012343
CM012345
CM012346
CM012347
CM012348
CM012349
CM085962
CM085959
CM098953
CM098944
CM098945
CM098946
CM098947
CM098948
CM098949
CM098950
CM098954
CM098951
CM098952
CM094057
CM993118
CM993119
CM993120
CM993121
CM993122
CM993123
CM993124
CM960349
CM960354
CM960359
CM960360
CM960366
CM960371
CM960372
CM960373
CM960376
CM960386
CM960388
GGT‐GAT
GGA‐GTA
GGT‐GAT
GGT‐GAT
GGC‐GAC
GGC‐GAC
GGC‐GAC
GGA‐GTA
GGG‐AGG
GAG‐TAG
GGA‐GTA
GGG‐GAG
GGT‐GAT
GGT‐GTT
GGT‐AGT
GGA‐AGA
GGC‐GCC
GGT‐GAT
GGG‐AGG
TGC‐TGA
TGT‐CGT
GGT‐GTT
GAA‐TAA
GAA‐TAA
GGT‐GAT
GGT‐AGT
GGT‐CGT
GGG‐AGG
GGC‐GAC
AAG‐AAT
GGT‐GTT
GGA‐TGA
GGA‐GAA
GGG‐AGG
GGT‐GCT
GGA‐GAA
GAA‐AAA
GGC‐GAC
GGG‐AGG
GGT‐AGT
CAA‐TAA
TGT‐TGG
GGA‐TGA
GGC‐GAC
ATT‐AGT
GGA‐GAA
GGT‐GTT
GGA‐GTA
GGG‐GAG
GGT‐GAT
GGA‐AGA
GGT‐GTT
GGT‐CGT
Gly594Asp
Gly763Val
Gly1018Asp
Gly1069Asp
Gly1137Asp
Gly1164Asp
Gly1486Asp
Gly129Val
Gly216Arg
Glu287Term
Gly292Val
Gly365Glu
Gly195Asp
Gly201Val
Gly594Ser
Gly595Arg
Gly626Ala
Gly766Asp
Gly1255Arg
Cys1521Term
Cys1586Arg
Gly334Val
Glu700Term
Glu46Term
Gly230Asp
Gly233Ser
Gly503Arg
Gly606Arg
Gly612Asp
Lys748Asn
Gly749Val
Gly769Term
Gly849Glu
Gly1036Arg
Gly1442Ala
Gly579Glu
Glu633Lys
Gly947Asp
Gly1158Arg
Gly1170Ser
Gln1393Term
Cys1678Trp
Gly325Term
Gly383Asp
Ile444Ser
Gly466Glu
Gly609Val
Gly684Val
Gly740Glu
Gly772Asp
Gly852Arg
Gly1104Val
Gly1182Arg
1781G>A
2288G>T
3053G>A
3206G>A
3410G>A
3491G>A
4457G>A
386G>T
646G>A
859G>T
875G>T
1094G>A
584G>A
602G>T
1780G>A
1783G>A
1877G>C
2297G>A
3763G>A
4563C>A
4756T>C
1001G>T
2098G>T
136G>T
689G>A
697G>A
1507G>C
1816G>A
1835G>A
2244G>T
2246G>T
2305G>T
2546G>A
3106G>A
4325G>C
1736G>A
1897G>A
2840G>A
3472G>A
3508G>A
4177C>T
5034T>G
973G>T
1148G>A
1331T>G
1397G>A
1826G>T
2051G>T
2219G>A
2315G>A
2554G>A
3311G>T
3544G>C
G594D
G763V
G1018D
G1069D
G1137D
G1164D
G1486D
G129V
G216R
E287*
G292V
G365E
G195D
G201V
G594S
G595R
G626A
G766D
G1255R
C1521*
C1586R
G334V
E700*
E46*
G230D
G233S
G503R
G606R
G612D
K748N
G749V
G769*
G849E
G1036R
G1442A
G579E
E633K
G947D
G1158R
G1170S
Q1393*
C1678W
G325*
G383D
I444S
G466E
G609V
G684V
G740E
G772D
G852R
G1104V
G1182R
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
Hashimura (2014) Kidney Int 85:1208
Heiskari (1996) J Am Soc Nephrol 7:702
Heiskari (1996) J Am Soc Nephrol 7:702
Heiskari (1996) J Am Soc Nephrol 7:702
Heiskari (1996) J Am Soc Nephrol 7:702
Heiskari (1996) J Am Soc Nephrol 7:702
Hertz (2001) Hum Mutat 18:141
Hertz (2001) Hum Mutat 18:141
Hertz (2001) Hum Mutat 18:141
Hertz (2001) Hum Mutat 18:141
Hertz (2001) Hum Mutat 18:141
Hertz (2001) Hum Mutat 18:141
Hertz (2001) Hum Mutat 18:141
Hertz (2001) Hum Mutat 18:141
Hertz (2001) Hum Mutat 18:141
Hertz (2008) Clin Genet 74:522
Hertz (2008) Clin Genet 74:522
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Hertz (2009) Dan Med Bull 56:105
Höpker (2009) Clin Nephrol 71:321
Inoue (1999) Am J Kidney Dis 34:854
Inoue (1999) Am J Kidney Dis 34:854
Inoue (1999) Am J Kidney Dis 34:854
Inoue (1999) Am J Kidney Dis 34:854
Inoue (1999) Am J Kidney Dis 34:854
Inoue (1999) Am J Kidney Dis 34:854
Inoue (1999) Am J Kidney Dis 34:854
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
Kawai (1996) Kidney Int 49:814
PubMed 24304881
PubMed 24304881
PubMed 24304881
PubMed 24304881
PubMed 24304881
PubMed 24304881
PubMed 24304881
PubMed 8738805
PubMed 8738805
PubMed 8738805
PubMed 8738805
PubMed 8738805
PubMed 11462238
PubMed 11462238
PubMed 11462238
PubMed 11462238
PubMed 11462238
PubMed 11462238
PubMed 11462238
PubMed 11462238
PubMed 11462238
PubMed 18616531
PubMed 18616531
PubMed 19728970
PubMed 19728970
PubMed 19728970
PubMed 19728970
PubMed 19728970
PubMed 19728970
PubMed 19728970
PubMed 19728970
PubMed 19728970
PubMed 19728970
PubMed 19728970
PubMed 19281745
PubMed 10561141
PubMed 10561141
PubMed 10561141
PubMed 10561141
PubMed 10561141
PubMed 10561141
PubMed 10561141
PubMed 8648925
PubMed 8648925
PubMed 8648925
PubMed 8648925
PubMed 8648925
PubMed 8648925
PubMed 8648925
PubMed 8648925
PubMed 8648925
PubMed 8648925
PubMed 8648925
www.ngpd.it
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
Elenco mutazioni NGPD
CM063908
CM063912
CM063910
CM063909
CM063911
CM063913
CM063907
CM920213
CM960340
CM960343
CM960344
CM960345
CM960348
CM960356
CM960357
CM960358
CM960361
CM960363
CM960364
CM960367
CM960368
CM960369
CM960370
CM960374
CM960375
CM960378
CM960379
CM960380
CM960381
CM960382
CM960383
CM960384
CM960385
CM960387
CM960389
CM960390
CM960391
CM960395
CM960397
CM960399
CM930167
CM930168
CM970365
CM970366
CM970367
CM970368
CM113174
CM113176
CM113171
CM113169
CM113175
CM113177
CM113170
GGA‐GAA
GGT‐AGT
GGT‐GAT
GGA‐GTA
GGT‐GAT
GGT‐CGT
TGG‐GGG
GGA‐AGA
GGC‐GTC
GGT‐CGT
GGG‐GAG
GGT‐CGT
GGT‐AGT
GGA‐GTA
GGA‐GAA
GGA‐GAA
GGG‐GAG
GGT‐TGT
GGT‐GAT
GGT‐CGT
GGT‐TGT
GGT‐GAT
GGT‐GAT
GGA‐AGA
GGA‐GTA
GGA‐GTA
GGA‐GAA
GGA‐GTA
CAG‐TAG
GGG‐GTG
GGT‐AGT
GGA‐TGA
GGT‐CGT
CAG‐TAG
GGT‐TGT
GGG‐GAG
GGC‐AGC
TCT‐TTT
TGG‐TGA
TGT‐CGT
CCT‐ACT
TGG‐AGG
GGA‐GAA
TCA‐TGA
GGT‐AGT
GGT‐AGT
GGT‐CGT
GGA‐AGA
GGC‐AGC
GGA‐CGA
GGG‐GAG
GGT‐GTT
GGT‐GCT
Gly213Glu
Gly313Ser
Gly521Asp
Gly787Val
Gly896Asp
Gly1442Arg
Trp1590Gly
Gly325Arg
Gly204Val
Gly230Arg
Gly239Glu
Gly264Arg
Gly298Ser
Gly412Val
Gly420Glu
Gly423Glu
Gly491Glu
Gly497Cys
Gly524Asp
Gly609Arg
Gly621Cys
Gly632Asp
Gly681Asp
Gly802Arg
Gly811Val
Gly953Val
Gly1015Glu
Gly1015Val
Gln1016Term
Gly1036Val
Gly1039Ser
Gly1057Term
Gly1066Arg
Gln1180Term
Gly1205Cys
Gly1211Glu
Gly1252Ser
Ser1488Phe
Trp1538Term
Cys1567Arg
Pro1517Thr
Trp1538Arg
Gly129Glu
Ser1071Term
Gly1270Ser
Gly1451Ser
Gly144Arg
Gly582Arg
Gly672Ser
Gly722Arg
Gly828Glu
Gly899Val
Gly1427Ala
638G>A
937G>A
1562G>A
2360G>T
2687G>A
4324G>C
4768T>G
973G>A
611G>T
688G>C
716G>A
790G>C
892G>A
1235G>T
1259G>A
1268G>A
1472G>A
1489G>T
1571G>A
1825G>C
1861G>T
1895G>A
2042G>A
2404G>A
2432G>T
2858G>T
3044G>A
3044G>T
3046C>T
3107G>T
3115G>A
3169G>T
3196G>C
3538C>T
3613G>T
3632G>A
3754G>A
4463C>T
4614G>A
4699T>C
4549C>A
4612T>A
386G>A
3212C>G
3808G>A
4351G>A
430G>C
1744G>A
2014G>A
2164G>C
2483G>A
2696G>T
4280G>C
G213E
G313S
G521D
G787V
G896D
G1442R
W1590G
G325R
G204V
G230R
G239E
G264R
G298S
G412V
G420E
G423E
G491E
G497C
G524D
G609R
G621C
G632D
G681D
G802R
G811V
G953V
G1015E
G1015V
Q1016*
G1036V
G1039S
G1057*
G1066R
Q1180*
G1205C
G1211E
G1252S
S1488F
W1538*
C1567R
P1517T
W1538R
G129E
S1071*
G1270S
G1451S
G144R
G582R
G672S
G722R
G828E
G899V
G1427A
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
King (2006) Hum Mutat 27:1061
King (2006) Hum Mutat 27:1061
King (2006) Hum Mutat 27:1061
King (2006) Hum Mutat 27:1061
King (2006) Hum Mutat 27:1061
King (2006) Hum Mutat 27:1061
King (2006) Hum Mutat 27:1061
Knebelmann (1992) Am J Hum Genet 51:135
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Knebelmann (1996) Am J Hum Genet 59:1221
Lemmink (1993) Genomics 17:485
Lemmink (1993) Genomics 17:485
Lemmink (1997) Hum Mutat 9:477
Lemmink (1997) Hum Mutat 9:477
Lemmink (1997) Hum Mutat 9:477
Lemmink (1997) Hum Mutat 9:477
Ma (2011) Nephrol Dial Transplant epub:epub
Ma (2011) Nephrol Dial Transplant epub:epub
Ma (2011) Nephrol Dial Transplant epub:epub
Ma (2011) Nephrol Dial Transplant epub:epub
Ma (2011) Nephrol Dial Transplant epub:epub
Ma (2011) Nephrol Dial Transplant epub:epub
Ma (2011) Nephrol Dial Transplant epub:epub
PubMed 16941480
PubMed 16941480
PubMed 16941480
PubMed 16941480
PubMed 16941480
PubMed 16941480
PubMed 16941480
PubMed 1376965
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8940267
PubMed 8406498
PubMed 8406498
PubMed 9195222
PubMed 9195222
PubMed 9195222
PubMed 9195222
PubMed 21505094
PubMed 21505094
PubMed 21505094
PubMed 21505094
PubMed 21505094
PubMed 21505094
PubMed 21505094
www.ngpd.it
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
Elenco mutazioni NGPD
CM113172
CM113178
CM113173
CM983305
CM983306
CM983307
CM983308
CM983309
CM983310
CM983311
CM983312
CM983313
CM983314
CM983315
CM983316
CM001100
CM001101
CM001102
CM001103
CM001104
CM134986
CM134984
CM134983
CM134985
HM070039
CM052206
CM052207
CM052208
CM052209
CM052210
CM052211
CM052212
CM052213
CM052214
CM052215
CM052216
CM052217
CM052218
CM052219
CM940312
HM050038
CM044602
CM044604
CM044603
CM990384
CM990385
CM990386
CM990387
CM990388
CM990390
CM990389
CM990391
CM990392
GGT‐GTT
ACA‐AGA
CGA‐CTA
CAG‐TAG
GGA‐GTA
GGT‐GAT
GGT‐GAT
GGT‐TGT
GGT‐AGT
GGA‐TGA
GGT‐AGT
AAA‐TAA
GGA‐AGA
GGG‐GAG
TAT‐TAA
TAT‐TAG
GGA‐AGA
GGA‐GAA
GGT‐GAT
GGC‐AGC
GGA‐TGA
GGG‐CGG
GGA‐GAA
GGA‐CGA
AAA‐TAA
GGC‐GTC
GGT‐GAT
GGA‐AGA
GGA‐GAA
GGT‐AGT
GGA‐AGA
GGT‐GTT
GGC‐GAC
GGC‐GTC
GGT‐AGT
GGA‐AGA
GGA‐GAA
GGC‐GTC
GGT‐TGT
CAA‐TAA
GGT‐TGT
CAG‐TAG
GGA‐GTA
CCG‐TCG
GAA‐TAA
GGT‐AGT
GAA‐TAA
GGC‐GTC
GGA‐AGA
GGT‐CGT
GGT‐GTT
GGA‐AGA
GGA‐AGA
Gly1433Val
Thr1480Arg
Arg1677Leu
Gln407Term
Gly420Val
Gly573Asp
Gly624Asp
Gly941Cys
Gly1030Ser
Gly1060Term
Gly1066Ser
Lys1097Term
Gly1196Arg
Gly1261Glu
Tyr1597Term
Tyr30Term
Gly415Arg
Gly1045Glu
Gly1086Asp
Gly1167Ser
Gly781Term
Gly828Arg
Gly988Glu
Gly1107Arg
Lys1320Term
Gly183Val
Gly264Asp
Gly426Arg
Gly469Glu
Gly675Ser
Gly763Arg
Gly887Val
Gly935Asp
Gly1063Val
Gly1083Ser
Gly1179Arg
Gly1214Glu
Gly1223Val
Gly1427Cys
Gln1679Term
Gly564Cys
Gln22Term
Gly852Val
Pro1314Ser
Glu130Term
Gly144Ser
Glu305Term
Gly331Val
Gly472Arg
Gly545Arg
Gly545Val
Gly561Arg
Gly579Arg
4298G>T
4439C>G
5030G>T
1219C>T
1259G>T
1718G>A
1871G>A
2821G>T
3088G>A
3178G>T
3196G>A
3289A>T
3586G>A
3782G>A
4791T>A
90T>G
1243G>A
3134G>A
3257G>A
3499G>A
2341G>T
2482G>C
2963G>A
3319G>C
3958A>T
548G>T
791G>A
1276G>A
1406G>A
2023G>A
2287G>A
2660G>T
2804G>A
3188G>T
3247G>A
3535G>A
3641G>A
3668G>T
4279G>T
5035C>T
1690G>T
64C>T
2555G>T
3940C>T
388G>T
430G>A
913G>T
992G>T
1414G>A
1633G>C
1634G>T
1681G>A
1735G>A
G1433V
T1480R
R1677L
Q407*
G420V
G573D
G624D
G941C
G1030S
G1060*
G1066S
K1097*
G1196R
G1261E
Y1597*
Y30*
G415R
G1045E
G1086D
G1167S
G781*
G828R
G988E
G1107R
K1320*
G183V
G264D
G426R
G469E
G675S
G763R
G887V
G935D
G1063V
G1083S
G1179R
G1214E
G1223V
G1427C
Q1679*
G564C
Q22*
G852V
P1314S
E130*
G144S
E305*
G331V
G472R
G545R
G545V
G561R
G579R
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Ma (2011) Nephrol Dial Transplant epub:epub
Ma (2011) Nephrol Dial Transplant epub:epub
Ma (2011) Nephrol Dial Transplant epub:epub
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (1998) J Am Soc Nephrol 9:2291
Martin (2000) Hum Mutat 15:579
Martin (2000) Hum Mutat 15:579
Martin (2000) Hum Mutat 15:579
Martin (2000) Hum Mutat 15:579
Martin (2000) Hum Mutat 15:579
Massella (2013) Clin J Am Soc Nephrol 8:749
Massella (2013) Clin J Am Soc Nephrol 8:749
Massella (2013) Clin J Am Soc Nephrol 8:749
Massella (2013) Clin J Am Soc Nephrol 8:749
Minucci (2007) Hum Genet 122:414
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nagel (2005) Hum Mutat 26:60
Nakazato (1994) Kidney Int 46:1307
Neri (2005) Hum Genet 118:543
Pan (2004) Nephrol Dial Transplant 19:1123
Pan (2004) Nephrol Dial Transplant 19:1123
Pan (2004) Nephrol Dial Transplant 19:1123
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
PubMed 21505094
PubMed 21505094
PubMed 21505094
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 9848783
PubMed 10862091
PubMed 10862091
PubMed 10862091
PubMed 10862091
PubMed 10862091
PubMed 23371956
PubMed 23371956
PubMed 23371956
PubMed 23371956
Source: Online submission
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 15954103
PubMed 7853788
Source: Online submission
PubMed 14993485
PubMed 14993485
PubMed 14993485
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
www.ngpd.it
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
Elenco mutazioni NGPD
CM990393
CM990394
CM990395
CM994792
CM990396
CM990397
CM990398
CM990399
CM990400
CM990401
CM990402
CM990403
CM990404
CM990405
CM990406
CM990407
CM990408
CM990409
CM990410
CM990411
CM990412
CM990413
CM920212
CM940311
CM960336
CM960338
CM960339
CM960342
CM960351
CM960352
CM960353
CM960355
CM960362
CM960365
CM960377
CM960392
CM960393
CM960394
CM960400
HM080027
CM055933
CM055934
CM072960
CM072961
CM072962
CM072963
CM920216
CM101182
CM101183
CM101185
CM101186
CM074112
CM074113
GGC‐GAC
GGT‐AGT
GGT‐GCT
GGT‐CGT
GGA‐TGA
GGG‐GAG
GGC‐GAC
GGT‐AGT
GGA‐GAA
GGA‐GAA
GGA‐GTA
CAG‐TAG
GGA‐AGA
GGG‐AGG
GGG‐CGG
GGT‐GAT
GGC‐AGC
GGT‐AGT
GGT‐GTT
GGT‐GAT
GGC‐GCC
CGA‐TGA
GGA‐GAA
GGC‐AGC
ATG‐GTG
GGA‐CGA
GGT‐CGT
GGC‐AGC
GGA‐GAA
CGA‐TGA
GGA‐GCA
GGT‐GAT
GGT‐GAT
GGA‐GCA
GGG‐GAG
GGA‐GTA
CGC‐TGC
GGG‐TGG
GGT‐GAT
TGC‐TGA
GGA‐GAA
GGT‐GAT
GGA‐CGA
GGA‐CGA
GGC‐GAC
GGA‐AGA
TGG‐TCG
GGA‐AGA
GGA‐TGA
GGA‐TGA
GAA‐CAA
GGG‐GTG
GGT‐GAT
Gly635Asp
Gly638Ser
Gly669Ala
Gly669Arg
Gly684Term
Gly687Glu
Gly743Asp
Gly778Ser
Gly808Glu
Gly852Glu
Gly878Val
Gln1061Term
Gly1107Arg
Gly1161Arg
Gly1211Arg
Gly1220Asp
Gly1333Ser
Gly1357Ser
Gly1427Val
Gly1442Asp
Gly1486Ala
Arg1677Term
Gly325Glu
Gly1143Ser
Met1Val
Gly174Arg
Gly177Arg
Gly219Ser
Gly371Glu
Arg373Term
Gly374Ala
Gly409Asp
Gly494Asp
Gly567Ala
Gly866Glu
Gly1379Val
Arg1410Cys
Gly1421Trp
Gly1596Asp
Cys29Term
Gly198Glu
Gly319Asp
Gly310Arg
Gly325Arg
Gly666Asp
Gly811Arg
Trp1538Ser
Gly48Arg
Gly825Term
Gly1336Term
Glu1568Gln
Gly216Val
Gly380Asp
1904G>A
1912G>A
2006G>C
2005G>C
2050G>T
2060G>A
2228G>A
2332G>A
2423G>A
2555G>A
2633G>T
3181C>T
3319G>A
3481G>A
3631G>C
3659G>A
3997G>A
4069G>A
4280G>T
4325G>A
4457G>C
5029C>T
974G>A
3427G>A
1A>G
520G>C
529G>C
655G>A
1112G>A
1117C>T
1121G>C
1226G>A
1481G>A
1700G>C
2597G>A
4136G>T
4228C>T
4261G>T
4787G>A
87C>A
593G>A
956G>A
928G>C
973G>C
1997G>A
2431G>A
4613G>C
142G>A
2473G>T
4006G>T
4702G>C
647G>T
1139G>A
G635D
G638S
G669A
G669R
G684*
G687E
G743D
G778S
G808E
G852E
G878V
Q1061*
G1107R
G1161R
G1211R
G1220D
G1333S
G1357S
G1427V
G1442D
G1486A
R1677*
G325E
G1143S
M1V
G174R
G177R
G219S
G371E
R373*
G374A
G409D
G494D
G567A
G866E
G1379V
R1410C
G1421W
G1596D
C29*
G198E
G319D
G310R
G325R
G666D
G811R
W1538S
G48R
G825*
G1336*
E1568Q
G216V
G380D
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Plant (1999) Hum Mutat 13:124
Renieri (1992) Hum Mol Genet 1:127
Renieri (1994) Nephron 67:444
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Renieri (1996) Am J Hum Genet 58:1192
Savige (2008) Hum Genet 124:301
Slajpah (2005) Pediatr Nephrol 20:1260
Slajpah (2005) Pediatr Nephrol 20:1260
Slajpah (2007) Kidney Int 71:1287
Slajpah (2007) Kidney Int 71:1287
Slajpah (2007) Kidney Int 71:1287
Slajpah (2007) Kidney Int 71:1287
Smeets (1992) Kidney Int 42:83
Tan (2010) Clin J Am Soc Nephrol 5:34
Tan (2010) Clin J Am Soc Nephrol 5:34
Tan (2010) Clin J Am Soc Nephrol 5:34
Tan (2010) Clin J Am Soc Nephrol 5:34
Tazon‐Vega (2007) Am J Kidney Dis 50:257.e1
Tazon‐Vega (2007) Am J Kidney Dis 50:257.e1
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 10094548
PubMed 1363780
PubMed 7969679
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
PubMed 8651296
Source: Online submission
PubMed 15942778
PubMed 15942778
PubMed 17396119
PubMed 17396119
PubMed 17396119
PubMed 17396119
PubMed 1635357
PubMed 19965530
PubMed 19965530
PubMed 19965530
PubMed 19965530
PubMed 17660027
PubMed 17660027
www.ngpd.it
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
COL4A5
Elenco mutazioni NGPD
CM074111
CM074114
CM074110
CM074115
CM116896
CM950304
CM960396
CM995169
CM995170
CM050558
CM050559
CM050560
CM050561
CM050562
CM050563
CM050564
CM050565
CM050566
CM129389
CM129357
CM129358
CM129390
CM129359
CM129360
CM129361
CM129362
CM129363
CM129364
CM129365
CM129367
CM129366
CM129375
CM129391
CM129368
CM129369
CM129370
CM129371
CM129372
CM129373
CM129374
CM129376
CM129377
CM129392
CM129378
CM129379
CM129380
CM074116
CM081216
CM085960
CM085961
CM108982
CM910095
CM920215
GGG‐GAG
GGT‐GAT
GGA‐GAA
GGT‐CGT
CAG‐TAG
GGT‐GAT
GCC‐GAC
GGA‐GAA
GGA‐GAA
CGA‐TGA
GGA‐GTA
ATC‐GTC
CAG‐TAG
GGA‐GTA
GGT‐AGT
GGT‐AGT
TGT‐TTT
TGC‐TTC
TCA‐TGA
CCA‐TCA
GGA‐AGA
CAA‐TAA
GGG‐AGG
GGT‐GAT
GGA‐AGA
GGG‐CGG
GGT‐GAT
GGT‐AGT
GGA‐AGA
GGA‐GAA
GGA‐GTA
CCT‐GCT
GGA‐TGA
GGT‐GTT
GGA‐GAA
GGC‐GAC
GGA‐AGA
GGC‐GAC
GGC‐GAC
GGA‐AGA
TGC‐TTC
TGT‐TCT
TGG‐TGA
TTG‐TCG
AGT‐AAT
CAA‐CCA
TGT‐TAT
GGA‐GAA
GGT‐CGT
CAG‐TAG
GGC‐GAC
TGT‐TCT
GGC‐GAC
Gly429Glu
Gly536Asp
Gly875Glu
Gly1086Arg
Gln379Term
Gly54Asp
Ala1498Asp
Gly527Glu
Gly869Glu
Arg266Term
Gly403Val
Ile703Val
Gln930Term
Gly1027Val
Gly1232Ser
Gly1448Ser
Cys1586Phe
Cys1681Phe
Ser36Term
Pro88Ser
Gly123Arg
Gln182Term
Gly239Arg
Gly322Asp
Gly527Arg
Gly615Arg
Gly638Asp
Gly650Ser
Gly699Arg
Gly719Glu
Gly719Val
Pro739Ala
Gly878Term
Gly893Val
Gly902Glu
Gly905Asp
Gly1176Arg
Gly1217Asp
Gly1223Asp
Gly1342Arg
Cys1476Phe
Cys1567Ser
Trp1594Term
Leu1621Ser
Ser1659Asn
Gln1679Pro
Cys1638Tyr
Gly1424Glu
Gly500Arg
Gln1383Term
Gly530Asp
Cys1564Ser
Gly1143Asp
1286G>A
1607G>A
2624G>A
3256G>C
1135C>T
161G>A
4493C>A
1580G>A
2606G>A
796C>T
1208G>T
2107A>G
2788C>T
3080G>T
3694G>A
4342G>A
4757G>T
5042G>T
107C>G
262C>T
367G>A
544C>T
715G>A
965G>A
1579G>A
1843G>C
1913G>A
1948G>A
2095G>A
2156G>A
2156G>T
2215C>G
2632G>T
2678G>T
2705G>A
2714G>A
3526G>A
3650G>A
3668G>A
4024G>A
4427G>T
4700G>C
4782G>A
4862T>C
4976G>A
5036A>C
4913G>A
4271G>A
1498G>C
4147C>T
1589G>A
4691G>C
3428G>A
G429E
G536D
G875E
G1086R
Q379*
G54D
A1498D
G527E
G869E
R266*
G403V
I703V
Q930*
G1027V
G1232S
G1448S
C1586F
C1681F
S36*
P88S
G123R
Q182*
G239R
G322D
G527R
G615R
G638D
G650S
G699R
G719E
G719V
P739A
G878*
G893V
G902E
G905D
G1176R
G1217D
G1223D
G1342R
C1476F
C1567S
W1594*
L1621S
S1659N
Q1679P
C1638Y
G1424E
G500R
Q1383*
G530D
C1564S
G1143D
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Alport syndrome
Tazon‐Vega (2007) Am J Kidney Dis 50:257.e1
Tazon‐Vega (2007) Am J Kidney Dis 50:257.e1
Tazon‐Vega (2007) Am J Kidney Dis 50:257.e1
Tazon‐Vega (2007) Am J Kidney Dis 50:257.e1
Tug (2011) Genet Couns 22:143
Turco (1995) Clin Genet 48:261
Tverskaya (1996) Hum Mutat 7:149
van der Loop (1999) Kidney Int 55:1217
van der Loop (1999) Kidney Int 55:1217
Wang (2005) Kidney Int 67:1268
Wang (2005) Kidney Int 67:1268
Wang (2005) Kidney Int 67:1268
Wang (2005) Kidney Int 67:1268
Wang (2005) Kidney Int 67:1268
Wang (2005) Kidney Int 67:1268
Wang (2005) Kidney Int 67:1268
Wang (2005) Kidney Int 67:1268
Wang (2005) Kidney Int 67:1268
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wang (2012) J Mol Diagn 14:586
Wilson (2007) Nephrol Dial Transplant 22:1338
Zhang (2007) Zhonghua Er Ke Za Zhi 45:484
Zhang (2008) Pediatr Nephrol 23:1245
Zhang (2008) Pediatr Nephrol 23:1245
Zhang (2010) Nephrology (Carlton) 16:377
Zhou (1991) Genomics 9:10
Zhou (1992) Am J Hum Genet 50:1291
PubMed 17660027
PubMed 17660027
PubMed 17660027
PubMed 17660027
PubMed 21848006
PubMed 8825605
PubMed 8829632
PubMed 10200983
PubMed 10200983
PubMed 15780079
PubMed 15780079
PubMed 15780079
PubMed 15780079
PubMed 15780079
PubMed 15780079
PubMed 15780079
PubMed 15780079
PubMed 15780079
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 22921432
PubMed 17277342
PubMed 17953801
PubMed 18343956
PubMed 18343956
PubMed 21143337
PubMed 1672282
PubMed 1598909
www.ngpd.it
Elenco mutazioni NGPD
COL4A5
COL4A5
COL4A5
CM920214
CM931217
CM960398
GGT‐TGT
CGA‐CAA
CGA‐TGA
Gly521Cys
Arg1563Gln
Arg1563Term
1561G>T
4688G>A
4687C>T
G521C
R1563Q
R1563*
COL5A1
CM090641
CTG‐CGG
Leu25Arg
74T>G
L25R
COL5A1
CM090642
CTG‐CCG
Leu25Pro
74T>C
L25P
COL5A1
CM132996
TGG‐TGA
Trp29Term
87G>A
W29*
COL5A1
CM128971
GGA‐TGA
Gly54Term
160G>T
G54*
COL5A1
CM128972
CAG‐TAG
Gln127Term
379C>T
Q127*
COL5A1
CM093857
TGG‐TGA
Trp165Term
495G>A
W165*
COL5A1
CM133010
ACC‐CCC
Thr178Pro
532A>C
T178P
COL5A1
CM050205
CAG‐TAG
Gln222Term
664C>T
Q222*
COL5A1
CM128973
GAG‐TAG
Glu468Term
1402G>T
E468*
COL5A1
CM128974
GGC‐GAC
Gly475Asp
1424G>A
G475D
COL5A1
CM128975
GGG‐AGG
Gly493Arg
1477G>A
G493R
COL5A1
CM1314302
GGC‐GTC
Gly511Val
1532G>T
G511V
COL5A1
CM020927
GGC‐AGC
Gly530Ser
1588G>A
G530S
COL5A1
CM132997
CAG‐TAG
Gln551Term
1651C>T
Q551*
COL5A1
CM093858
CAG‐TAG
Gln552Term
1654C>T
Q552*
COL5A1
CM050206
CGA‐TGA
Arg594Term
1780C>T
R594*
COL5A1
CM050207
GGA‐TGA
Gly619Term
1855G>T
G619*
COL5A1
CM1213150
CAG‐TAG
Gln729Term
2185C>T
Q729*
COL5A1
CM133011
GAA‐GAT
Glu812Asp
2436A>T
E812D
COL5A1
CM128976
GAG‐TAG
Glu1013Term
3037G>T
E1013*
COL5A1
CM050208
CGA‐TGA
Arg1062Term
3184C>T
R1062*
COL5A1
CM128977
GGA‐GAA
Gly1072Glu
3215G>A
G1072E
COL5A1
CM132998
CAG‐TAG
Gln1110Term
3328C>T
Q1110*
COL5A1
CM133012
GGG‐GAG
Gly1138Glu
3413G>A
G1138E
COL5A1
CM128978
GGG‐AGG
Gly1162Arg
3484G>A
G1162R
COL5A1
CM132999
CAG‐TAG
Gln1190Term
3568C>T
Q1190*
COL5A1
CM128979
CGA‐TGA
Arg1257Term
3769C>T
R1257*
COL5A1
CM093854
GAG‐AAG
Glu1292Lys
3874G>A
E1292K
Alport syndrome
Alport syndrome
Alport syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Zhou (1992) J Biol Chem 267:12475
Zhou (1993) Kidney Int 43:722
Zhou (1993) Kidney Int 43:722
PubMed 1352287
PubMed 8455372
PubMed 8455372
Symoens (2009) Hum Mutat 30:E395
PubMed 18972565
Symoens (2009) Hum Mutat 30:E395
PubMed 18972565
Ritelli (2013) Orphanet J Rare Dis 8:58
PubMed 23587214
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Mitchell (2009) Hum Mutat 30:995
PubMed 19370768
Ritelli (2013) Orphanet J Rare Dis 8:58
PubMed 23587214
Malfait (2005) Hum Mutat 25:28
PubMed 15580559
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Yasuda (2013) Ann Vasc Surg 27:975.e1
PubMed 23891251
Giunta (2002) Am J Med Genet 109:284
PubMed 11992482
Ritelli (2013) Orphanet J Rare Dis 8:58
PubMed 23587214
Mitchell (2009) Hum Mutat 30:995
PubMed 19370768
Malfait (2005) Hum Mutat 25:28
PubMed 15580559
Malfait (2005) Hum Mutat 25:28
PubMed 15580559
Mehta (2012) Int J Angiol 21:167
PubMed 23997563
Ritelli (2013) Orphanet J Rare Dis 8:58
PubMed 23587214
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Malfait (2005) Hum Mutat 25:28
PubMed 15580559
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Ritelli (2013) Orphanet J Rare Dis 8:58
PubMed 23587214
Ritelli (2013) Orphanet J Rare Dis 8:58
PubMed 23587214
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Ritelli (2013) Orphanet J Rare Dis 8:58
PubMed 23587214
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Mitchell (2009) Hum Mutat 30:995
PubMed 19370768
www.ngpd.it
Elenco mutazioni NGPD
COL5A1
CM133013
GGT‐GAT
Gly1393Asp
4178G>A
G1393D
COL5A1
CM050209
GAA‐TAA
Glu1412Term
4234G>T
E1412*
COL5A1
CM050210
GGC‐TGC
Gly1486Cys
4456G>T
G1486C
COL5A1
CM093855
GGG‐AGG
Gly1489Arg
4465G>A
G1489R
COL5A1
CM000006
GGG‐GAG
Gly1489Glu
4466G>A
G1489E
COL5A1
CM128980
GGT‐AGT
Gly1492Ser
4474G>A
G1492S
COL5A1
CM128982
CAG‐TAG
Gln1518Term
4552C>T
Q1518*
COL5A1
CM128983
CAG‐TAG
Gln1574Term
4720C>T
Q1574*
COL5A1
CM970370
TGC‐TCC
Cys1639Ser
4916G>C
C1639S
COL5A1
CM128984
TGC‐TAC
Cys1639Tyr
4916G>A
C1639Y
COL5A1
CM133000
TAC‐TAG
Tyr1654Term
4962C>G
Y1654*
COL5A1
CM128985
GGG‐AGG
Gly1832Arg
5494G>A
G1832R
COL5A1
CM093856
TGC‐TCC
Cys1835Ser
5504G>C
C1835S
COL5A1
CM001105
CGA‐TGA
Arg792Term
2374C>T
R792*
COL5A1
CM121344
GGC‐GAC
Gly1564Asp
4691G>A
G1564D
COL5A2
CM129063
GGC‐CGC
Gly396Arg
1186G>C
G396R
COL5A2
CM129064
GGA‐AGA
Gly645Arg
1933G>A
G645R
COL5A2
CM093861
GGC‐GCC
Gly1146Ala
3437G>C
G1146A
COL5A2
CM980402
GGT‐CGT
Gly1149Arg
3445G>C
G1149R
COL5A2
CM129065
GGA‐AGA
Gly1209Arg
3625G>A
COL7A1
CM940313
CGA‐TGA
Arg236Term
COL7A1
CM940315
TGG‐TGA
COL7A1
CM994038
COL7A1
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome I
Ritelli (2013) Orphanet J Rare Dis 8:58
PubMed 23587214
Malfait (2005) Hum Mutat 25:28
PubMed 15580559
Malfait (2005) Hum Mutat 25:28
PubMed 15580559
Mitchell (2009) Hum Mutat 30:995
PubMed 19370768
Giunta (2000) Am J Med Genet 90:72
PubMed 10602121
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
De Paepe (1997) Am J Hum Genet 60:547
PubMed 9042913
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Ritelli (2013) Orphanet J Rare Dis 8:58
PubMed 23587214
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Mitchell (2009) Hum Mutat 30:995
PubMed 19370768
Wenstrup (2000) Am J Hum Genet 66:1766
PubMed 10777716
de Leeuw (2012) Am J Med Genet A 158A:626
PubMed 22302579
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
Mitchell (2009) Hum Mutat 30:995
PubMed 19370768
Richards (1998) J Med Genet 35:846
PubMed 9783710
G1209R
syndrome with Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome
Ehlers‐Danlos syndrome II
Ehlers‐Danlos syndrome
Symoens (2012) Hum Mutat 33:1485
PubMed 22696272
706C>T
R236*
Epidermolysis bullosa
Hovnanian (1994) Am J Hum Genet 55:289
PubMed 8037207
Trp796Term
2388G>A
W796*
Epidermolysis bullosa
Christiano (1994) Genomics 21:160
PubMed 8088783
CAG‐TAG
Gln1211Term
3631C>T
Q1211*
Epidermolysis bullosa
Pulkkinen (1999) Matrix Biol 18:29
PubMed 10367729
CM940316
CGA‐TGA
Arg1340Term
4018C>T
R1340*
Epidermolysis bullosa
Hovnanian (1994) Am J Hum Genet 55:289
PubMed 8037207
COL7A1
CM940317
CGA‐TGA
Arg1343Term
4027C>T
R1343*
Epidermolysis bullosa
Hovnanian (1994) Am J Hum Genet 55:289
PubMed 8037207
COL7A1
CM994039
CGA‐TGA
Arg1630Term
4888C>T
R1630*
Epidermolysis bullosa
Pulkkinen (1999) Matrix Biol 18:29
PubMed 10367729
COL7A1
CM994041
CGC‐TGC
Arg2002Cys
6004C>T
R2002C
Epidermolysis bullosa
Pulkkinen (1999) Matrix Biol 18:29
PubMed 10367729
COL7A1
CM940318
GGT‐AGT
Gly2040Ser
6118G>A
G2040S
Epidermolysis bullosa
Christiano (1994) Proc Natl Acad Sci U S A 91:3549
PubMed 8170945
COL7A1
CM994042
CGA‐TGA
Arg2338Term
7012C>T
R2338*
Epidermolysis bullosa
Pulkkinen (1999) Matrix Biol 18:29
PubMed 10367729
COL7A1
CM950318
GGC‐TGC
Gly2623Cys
7867G>T
G2623C
Epidermolysis bullosa
Christiano (1995) Hum Mol Genet 4:1579
PubMed 8541842
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM994043
GGT‐AGT
Gly2695Ser
8083G>A
G2695S
Epidermolysis bullosa
Pulkkinen (1999) Matrix Biol 18:29
PubMed 10367729
COL7A1
CM994044
CAA‐TAA
Gln2796Term
8386C>T
Q2796*
Epidermolysis bullosa
Pulkkinen (1999) Matrix Biol 18:29
PubMed 10367729
COL7A1
CM930170
ATG‐AAG
Met2798Lys
8393T>A
M2798K
Christiano (1993) Nat Genet 4:62
PubMed 8513326
COL7A1
CM095156
ATG‐ATA
Met1Ile
3G>A
M1I
van den Akker (2009) J Dermatol Sci 56:9
PubMed 19665875
COL7A1
CM095157
ATG‐ATT
Met1Ile
3G>T
M1I
van den Akker (2009) J Dermatol Sci 56:9
PubMed 19665875
COL7A1
CM031150
CGA‐TGA
Arg20Term
58C>T
R20*
Pfendner (2003) Prenat Diagn 23:447
PubMed 12813757
COL7A1
CM128852
GAT‐AAT
Asp44Asn
130G>A
D44N
Makino (2012) J Dermatol Sci 68:109
PubMed 22854212
COL7A1
CM144469
TCA‐TTA
Ser47Leu
140C>T
S47L
Chiaverini (2014) Br J Dermatol 170:901
PubMed 24252097
COL7A1
CM051896
TCC‐CCC
Ser48Pro
142T>C
S48P
Jiang (2005) Br J Dermatol 152:1357
PubMed 15949010
COL7A1
CM063914
CGC‐GGC
Arg51Gly
151C>G
R51G
Drera (2006) Clin Genet 70:339
PubMed 16965329
COL7A1
CM070884
GCC‐CCC
Ala80Pro
238G>C
A80P
Varki (2007) J Med Genet 44:181
PubMed 16971478
COL7A1
CM031662
GAG‐TAG
Glu109Term
325G>T
E109*
Pfendner (2003) Prenat Diagn 23:447
PubMed 12813757
COL7A1
CM103719
TAC‐TAG
Tyr112Term
336C>G
Y112*
Escámez (2010) Br J Dermatol 163:155
PubMed 20184583
COL7A1
CM056316
CGA‐TGA
Arg137Term
409C>T
R137*
Sawamura (2005) J Hum Genet 50:543
PubMed 16189623
COL7A1
CM090793
GGG‐AGG
Gly150Arg
448G>A
G150R
Drera (2009) J Dermatol Sci 53:222
PubMed 18951764
COL7A1
CM112254
GGG‐AGG
Gly174Arg
520G>A
G174R
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
COL7A1
CM970371
CGA‐TGA
Arg185Term
553C>T
R185*
Hovnanian (1997) Am J Hum Genet 61:599
PubMed 9326325
COL7A1
CM992835
CAG‐TAG
Gln189Term
565C>T
Q189*
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
COL7A1
CM960403
CGA‐TGA
Arg226Term
676C>T
R226*
Christiano (1996) J Invest Dermatol 106:679
PubMed 8618004
COL7A1
CM960404
CAG‐TAG
Gln251Term
751C>T
Q251*
Christiano (1996) Mol Med 2:59
PubMed 8900535
COL7A1
CM970372
CAG‐TAG
Gln281Term
841C>T
Q281*
Hovnanian (1997) Am J Hum Genet 61:599
PubMed 9326325
COL7A1
CM950316
TAC‐TAA
Tyr311Term
933C>A
Y311*
Christiano (1995) J Clin Invest 95:1328
PubMed 7883979
COL7A1
CM107560
TAC‐TAA
Tyr444Term
1332C>A
Y444*
Chiaverini (2010) J Invest Dermatol 130:2508
PubMed 20555349
COL7A1
CM992836
CGA‐TGA
Arg525Term
1573C>T
R525*
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
COL7A1
CM940314
CGA‐TGA
Arg578Term
1732C>T
R578*
Dunnill (1994) Hum Mol Genet 3:1693
PubMed 7833933
COL7A1
CM071652
TCA‐TGA
Ser609Term
1826C>G
S609*
Varki (2007) J Med Genet 44:181
PubMed 16971478
COL7A1
CM070882
CGA‐TGA
Arg613Term
1837C>T
R613*
Varki (2007) J Med Genet 44:181
PubMed 16971478
COL7A1
CM056315
CAG‐TAG
Gln641Term
1921C>T
Q641*
Sawamura (2005) J Hum Genet 50:543
PubMed 16189623
COL7A1
CM983822
CGA‐TGA
Arg669Term
2005C>T
R669*
Cserhalmi‐Friedman (1998) Lab Invest 78:1483
PubMed 9881948
COL7A1
CM992837
CGA‐TGA
Arg682Term
2044C>T
R682*
Epidermolysis bullosa
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM071637
GTG‐ATG
Val760Met
2278G>A
V760M
COL7A1
CM960405
TGG‐TAG
Trp796Term
2387G>A
W796*
COL7A1
CM060937
CGA‐TGA
Arg843Term
2527C>T
R843*
COL7A1
CM060935
CAG‐TAG
Gln877Term
2629C>T
Q877*
COL7A1
CM056943
CGC‐CCC
Arg886Pro
2657G>C
R886P
COL7A1
CM095158
TGG‐TAG
Trp900Term
2699G>A
W900*
COL7A1
CM031663
CAG‐TAG
Gln906Term
2716C>T
Q906*
COL7A1
CM095163
CGG‐CCG
Arg910Pro
2729G>C
R910P
COL7A1
CM070879
GAG‐TAG
Glu915Term
2743G>T
E915*
COL7A1
CM060932
GGG‐AGG
Gly923Arg
2767G>A
G923R
COL7A1
CM096522
TGG‐TAG
Trp989Term
2966G>A
W989*
COL7A1
CM103720
CAG‐TAG
Gln1044Term
3130C>T
Q1044*
COL7A1
CM103713
TAC‐TAG
Tyr1098Term
3294C>G
Y1098*
COL7A1
CM014331
TAT‐TCT
Tyr1250Ser
3749A>C
Y1250S
COL7A1
CM074758
CAG‐TAG
Gln1286Term
3856C>T
Q1286*
COL7A1
CM096523
GGG‐AGG
Gly1314Arg
3940G>A
G1314R
COL7A1
HM080097
GGC‐GAC
Gly1332Asp
3995G>A
G1332D
COL7A1
CM095159
GGA‐AGA
Gly1338Arg
4012G>A
G1338R
COL7A1
CM074762
GGA‐GTA
Gly1338Val
4013G>T
G1338V
COL7A1
CM980404
GGG‐CGG
Gly1347Arg
4039G>C
G1347R
COL7A1
CM060943
GGG‐TGG
Gly1347Trp
4039G>T
G1347W
COL7A1
CM103729
GGG‐AGG
Gly1383Arg
4147G>A
G1383R
COL7A1
CM071653
GAG‐TAG
Glu1451Term
4351G>T
E1451*
COL7A1
CM071634
CCA‐CTA
Pro1458Leu
4373C>T
P1458L
COL7A1
CM060945
GGA‐AGA
Gly1492Arg
4474G>A
G1492R
COL7A1
CM060931
GGG‐CGG
Gly1522Arg
4564G>C
G1522R
COL7A1
CM992838
GGG‐GAG
Gly1522Glu
4565G>A
G1522E
COL7A1
CM118676
CAA‐TAA
Gln1530Term
4588C>T
Q1530*
COL7A1
CM074763
GAG‐TAG
Glu1535Term
4603G>T
E1535*
COL7A1
CM083608
CGC‐CAC
Arg1538His
4613G>A
R1538H
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Varki (2007) J Med Genet 44:181
PubMed 16971478
Christiano (1996) Mol Med 2:59
PubMed 8900535
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Kern (2006) J Invest Dermatol 126:1006
Posteraro (2005) Biochem Biophys Res Commun 338:1391
PubMed 16484981
PubMed 16271705
van den Akker (2009) J Dermatol Sci 56:9
PubMed 19665875
Pfendner (2003) Prenat Diagn 23:447
PubMed 12813757
van den Akker (2009) J Dermatol Sci 56:9
PubMed 19665875
Varki (2007) J Med Genet 44:181
PubMed 16971478
Abu Sa'd (2006) J Invest Dermatol 126:777
PubMed 16439963
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Escámez (2010) Br J Dermatol 163:155
PubMed 20184583
Escámez (2010) Br J Dermatol 163:155
PubMed 20184583
Ryoo (2001) J Dermatol Sci 26:125
PubMed 11378329
Oh (2007) Br J Dermatol 157:1260
PubMed 17916216
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Garcia (2009) Hum Genet 126:334
Source: Online submission
van den Akker (2009) J Dermatol Sci 56:9
PubMed 19665875
Dang (2007) J Dermatol Sci 46:169
PubMed 17425959
Terracina (1998) J Invest Dermatol 111:744
PubMed 9804332
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Escámez (2010) Br J Dermatol 163:155
PubMed 20184583
Varki (2007) J Med Genet 44:181
PubMed 16971478
Varki (2007) J Med Genet 44:181
PubMed 16971478
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Shaiq (2011) J Dermatol epub:epub
PubMed 21967228
Chao (2007) J Formos Med Assoc 106:86
PubMed 17282977
Saito (2008) J Dermatol Sci 52:13
PubMed 18440202
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM960406
GGA‐AGA
Gly1557Arg
4669G>A
G1557R
COL7A1
CM112255
GGG‐GCG
Gly1572Ala
4715G>C
G1572A
COL7A1
CM022340
GGT‐CGT
Gly1595Arg
4783G>C
G1595R
COL7A1
CM992839
GGA‐AGA
Gly1604Arg
4810G>A
G1604R
COL7A1
CM060941
GGA‐AGA
Gly1616Arg
4846G>A
G1616R
COL7A1
CM094899
GTT‐ATT
Val1627Ile
4879G>A
V1627I
COL7A1
CM992840
CGA‐TGA
Arg1632Term
4894C>T
R1632*
COL7A1
CM970373
GGA‐AGA
Gly1652Arg
4954G>A
G1652R
COL7A1
CM071630
GGC‐CGC
Gly1655Arg
4963G>C
G1655R
COL7A1
CM023054
GGA‐GCA
Gly1664Ala
4991G>C
G1664A
COL7A1
CM071650
GGA‐AGA
Gly1673Arg
5017G>A
G1673R
COL7A1
CM122303
CCT‐CTT
Pro1678Leu
5033C>T
P1678L
COL7A1
CM056314
CGA‐TGA
Arg1683Term
5047C>T
R1683*
COL7A1
CM034952
TCA‐TGA
Ser1689Term
5066C>G
S1689*
COL7A1
CM074764
GGT‐TGT
Gly1694Cys
5080G>T
G1694C
COL7A1
CM120751
GGT‐GTT
Gly1694Val
5081G>T
G1694V
COL7A1
CM031664
CGT‐TGT
Arg1696Cys
5086C>T
R1696C
COL7A1
CM005548
GGG‐GAG
Gly1697Glu
5090G>A
G1697E
COL7A1
CM023055
CCG‐CTG
Pro1699Leu
5096C>T
P1699L
COL7A1
CM992841
GGA‐GAA
Gly1703Glu
5108G>A
G1703E
COL7A1
CM060942
GGA‐CGA
Gly1719Arg
5155G>C
G1719R
COL7A1
CM992842
CGA‐TGA
Arg1730Term
5188C>T
R1730*
COL7A1
CM112238
GGT‐GAT
Gly1734Asp
5201G>A
G1734D
COL7A1
CM056945
GGC‐GAC
Gly1755Asp
5264G>A
G1755D
COL7A1
CM112239
GGC‐GTC
Gly1755Val
5264G>T
G1755V
COL7A1
CM096524
CGA‐TGA
Arg1763Term
5287C>T
R1763*
COL7A1
CM112240
GGC‐GAC
Gly1764Asp
5291G>A
G1764D
COL7A1
CM112231
GGT‐AGT
Gly1770Ser
5308G>A
G1770S
COL7A1
CM992843
CGG‐TGG
Arg1772Trp
5314C>T
R1772W
COL7A1
CM093145
GGT‐GAT
Gly1773Asp
5318G>A
G1773D
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Christiano (1996) Am J Hum Genet 58:671
PubMed 8644729
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Sato‐Matsumura (2002) Arch Dermatol 138:269
PubMed 11843659
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Cho (2009) J Korean Med Sci 24:256
PubMed 19399267
Whittock (1999) J Invest Dermatol 113:673
Cserhalmi‐Friedman (1997) Arch Dermatol Res 289:640
PubMed 10504458
Varki (2007) J Med Genet 44:181
PubMed 16971478
Gardella (2002) J Invest Dermatol 119:1456
PubMed 12485454
Varki (2007) J Med Genet 44:181
PubMed 16971478
Wertheim‐Tysarowska (2012) Eur J Dermatol 22:23
PubMed 22266148
Sawamura (2005) J Hum Genet 50:543
PubMed 16189623
Kim (2003) J Dermatol Sci 33:180
PubMed 14643524
Oh (2007) Br J Dermatol 157:1260
PubMed 17916216
Rodríguez (2012) J Dermatol Sci 65:149
PubMed 22209565
Pfendner (2003) Prenat Diagn 23:447
PubMed 12813757
Salas‐Alanis (2000) Int J Dermatol 39:436
PubMed 10944088
Gardella (2002) J Invest Dermatol 119:1456
PubMed 12485454
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Almaani (2011) Acta Derm Venereol 91:262
Posteraro (2005) Biochem Biophys Res Commun 338:1391
PubMed 21448560
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Almaani (2009) Acta Derm Venereol 89:6
PubMed 19197535
PubMed 9444387
PubMed 16271705
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM122299
GGT‐GTT
Gly1773Val
5318G>T
G1773V
COL7A1
CM992844
GGG‐AGG
Gly1776Arg
5326G>A
G1776R
COL7A1
CM112241
GGG‐GAG
Gly1776Glu
5327G>A
G1776E
COL7A1
CM084871
GGG‐TGG
Gly1776Trp
5326G>T
G1776W
COL7A1
CM960407
GGA‐AGA
Gly1782Arg
5344G>A
G1782R
COL7A1
CM060939
GGA‐GTA
Gly1782Val
5345G>T
G1782V
COL7A1
CM000128
GGC‐CGC
Gly1812Arg
5434G>C
G1812R
COL7A1
CM074759
CGT‐TGT
Arg1814Cys
5440C>T
R1814C
COL7A1
CM022341
GGA‐AGA
Gly1815Arg
5443G>A
G1815R
COL7A1
CM071642
GGC‐GAC
Gly1839Asp
5516G>A
G1839D
COL7A1
CM104438
GGA‐AGA
Gly1845Arg
5533G>A
G1845R
COL7A1
CM096525
GGA‐GAA
Gly1857Glu
5570G>A
G1857E
COL7A1
CM112821
GGC‐GTC
Gly1899Val
5696G>T
G1899V
COL7A1
CM095160
GGA‐GAA
Gly1907Glu
5720G>A
G1907E
COL7A1
CM0911016
GGC‐AGC
Gly1910Ser
5728G>A
G1910S
COL7A1
CM071651
GGT‐GAT
Gly1913Asp
5738G>A
G1913D
COL7A1
CM992845
CGA‐TGA
Arg1933Term
5797C>T
R1933*
COL7A1
CM070878
CCG‐CTG
Pro1940Leu
5819C>T
P1940L
COL7A1
CM056317
CGG‐CAG
Arg1957Gln
5870G>A
R1957Q
COL7A1
CM992846
CGA‐TGA
Arg1978Term
5932C>T
R1978*
COL7A1
CM104439
AAG‐AGG
Lys1981Arg
5942A>G
K1981R
COL7A1
CM112256
GGG‐GAG
Gly1982Glu
5945G>A
G1982E
COL7A1
CM970374
GGG‐TGG
Gly1982Trp
5944G>T
G1982W
COL7A1
CM112242
GGG‐GAG
Gly2003Glu
6008G>A
G2003E
COL7A1
CM992847
GGC‐GCC
Gly2006Ala
6017G>C
G2006A
COL7A1
CM980406
GGC‐GAC
Gly2006Asp
6017G>A
G2006D
COL7A1
CM034798
GGC‐AGC
Gly2006Ser
6016G>A
G2006S
COL7A1
CM980407
CGT‐TGT
Arg2008Cys
6022C>T
R2008C
COL7A1
CM970375
CGT‐GGT
Arg2008Gly
6022C>G
R2008G
COL7A1
CM071638
GGA‐GCA
Gly2009Ala
6026G>C
G2009A
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Wertheim‐Tysarowska (2012) Eur J Dermatol 22:23
PubMed 22266148
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Bursztejn (2008) Ann Dermatol Venereol 135:195
PubMed 18374850
Christiano (1996) J Invest Dermatol 106:778
PubMed 8618021
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Masunaga (2000) J Invest Dermatol 114:204
PubMed 10620140
Dang (2007) J Dermatol Sci 46:169
PubMed 17425959
Sato‐Matsumura (2002) Arch Dermatol 138:269
PubMed 11843659
Varki (2007) J Med Genet 44:181
PubMed 16971478
Jerábková (2010) J Dermatol Sci 59:136
PubMed 20598510
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Leverkus (2011) Br J Dermatol 164:1104
PubMed 21275939
van den Akker (2009) J Dermatol Sci 56:9
PubMed 19665875
Hashikawa (2009) J Dermatol Sci 56:66
PubMed 19643583
Varki (2007) J Med Genet 44:181
PubMed 16971478
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Varki (2007) J Med Genet 44:181
PubMed 16971478
Sawamura (2005) J Hum Genet 50:543
PubMed 16189623
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Jerábková (2010) J Dermatol Sci 59:136
PubMed 20598510
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Hovnanian (1997) Am J Hum Genet 61:599
PubMed 9326325
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Hammami‐Hauasli (1998) J Biol Chem 273:19228
PubMed 9668111
Mallipeddi (2003) Br J Dermatol 149:810
PubMed 14616374
Kon (1998) J Invest Dermatol 111:534
PubMed 9740253
Hovnanian (1997) Am J Hum Genet 61:599
PubMed 9326325
Varki (2007) J Med Genet 44:181
PubMed 16971478
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM970376
GGA‐AGA
Gly2009Arg
6025G>A
G2009R
COL7A1
CM022642
GGC‐GAC
Gly2012Asp
6035G>A
G2012D
COL7A1
CM023056
GGC‐AGC
Gly2012Ser
6034G>A
G2012S
COL7A1
CM980408
GGG‐GAG
Gly2015Glu
6044G>A
G2015E
COL7A1
CM071649
GGG‐GTG
Gly2015Val
6044G>T
G2015V
COL7A1
CM970377
GGC‐GCC
Gly2025Ala
6074G>C
G2025A
COL7A1
CM071643
GGC‐GAC
Gly2025Asp
6074G>A
G2025D
COL7A1
CM031151
GGC‐AGC
Gly2025Ser
6073G>A
G2025S
COL7A1
CM096526
CCC‐CTC
Pro2027Leu
6080C>T
P2027L
COL7A1
CM004463
GGG‐GCG
Gly2028Ala
6083G>C
G2028A
COL7A1
CM001106
GGG‐AGG
Gly2028Arg
6082G>A
G2028R
COL7A1
CM093148
GGG‐GAG
Gly2028Glu
6083G>A
G2028E
COL7A1
CM071636
GGG‐TGG
Gly2028Trp
6082G>T
G2028W
COL7A1
CM014172
GGC‐AGC
Gly2031Ser
6091G>A
G2031S
COL7A1
CM970378
GGG‐AGG
Gly2034Arg
6100G>A
G2034R
COL7A1
CM060940
GGG‐GAG
Gly2034Glu
6101G>A
G2034E
COL7A1
CM980409
GGG‐TGG
Gly2034Trp
6100G>T
G2034W
COL7A1
CM066551
GGA‐AGA
Gly2037Arg
6109G>A
G2037R
COL7A1
CM990415
GGA‐GAA
Gly2037Glu
6110G>A
G2037E
COL7A1
CM992848
GGT‐GAT
Gly2040Asp
6119G>A
G2040D
COL7A1
CM980410
GGT‐GTT
Gly2040Val
6119G>T
G2040V
COL7A1
CM950317
GGG‐AGG
Gly2043Arg
6127G>A
G2043R
COL7A1
CM074760
GGG‐CGG
Gly2043Arg
6127G>C
G2043R
COL7A1
CM071646
GGG‐GAG
Gly2043Glu
6128G>A
G2043E
COL7A1
CM990416
GGG‐TGG
Gly2043Trp
6127G>T
G2043W
COL7A1
CM122302
CCA‐CTA
Pro2045Leu
6134C>T
P2045L
COL7A1
CM112243
GGC‐GAC
Gly2046Asp
6137G>A
G2046D
COL7A1
CM992849
GGC‐GTC
Gly2046Val
6137G>T
G2046V
COL7A1
CM970379
GGG‐GAG
Gly2049Glu
6146G>A
G2049E
COL7A1
CM960409
GGA‐GAA
Gly2055Glu
6164G>A
G2055E
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Winberg (1997) Hum Mol Genet 6:1125
PubMed 9215684
Matsuba (2002) Clin Exp Dermatol 27:56
PubMed 11952672
Gardella (2002) J Invest Dermatol 119:1456
PubMed 12485454
Hammami‐Hauasli (1998) J Biol Chem 273:19228
PubMed 9668111
Varki (2007) J Med Genet 44:181
PubMed 16971478
Hovnanian (1997) Am J Hum Genet 61:599
PubMed 9326325
Varki (2007) J Med Genet 44:181
PubMed 16971478
Pfendner (2003) Prenat Diagn 23:447
PubMed 12813757
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Murata (2000) Arch Dermatol Res 292:477
PubMed 11142768
Lee (2000) Arch Dermatol Res 292:159
PubMed 10836608
Almaani (2009) Acta Derm Venereol 89:6
PubMed 19197535
Varki (2007) J Med Genet 44:181
PubMed 16971478
Nordal (2001) Br J Dermatol 144:151
PubMed 11167698
Kon (1997) J Invest Dermatol 109:684
PubMed 9347800
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Rouan (1998) J Invest Dermatol 111:1210
PubMed 9856843
Iwata (2006) J Dermatol 33:550
PubMed 16923137
Jonkman (1999) J Invest Dermatol 112:815
PubMed 10233777
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Rouan (1998) J Invest Dermatol 111:1210
PubMed 9856843
Christiano (1995) J Invest Dermatol 104:438
PubMed 7861014
Dang (2007) J Dermatol Sci 46:169
PubMed 17425959
Varki (2007) J Med Genet 44:181
PubMed 16971478
Mecklenbeck (1999) J Invest Dermatol 112:398
PubMed 10084325
Wertheim‐Tysarowska (2012) Eur J Dermatol 22:23
PubMed 22266148
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Hovnanian (1997) Am J Hum Genet 61:599
PubMed 9326325
Christiano (1996) Am J Hum Genet 58:671
PubMed 8644729
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM096527
GGA‐GCA
Gly2058Ala
6173G>C
G2058A
COL7A1
CM092533
GGA‐GAA
Gly2058Glu
6173G>A
G2058E
COL7A1
CM060934
GAG‐GGG
Glu2059Gly
6176A>G
E2059G
COL7A1
CM074761
GGA‐GAA
Gly2061Glu
6182G>A
G2061E
COL7A1
CM103721
GGA‐GTA
Gly2061Val
6182G>T
G2061V
COL7A1
CM970380
CGG‐GGG
Arg2063Gly
6187C>G
R2063G
COL7A1
CM970381
CGG‐TGG
Arg2063Trp
6187C>T
R2063W
COL7A1
CM980411
GGA‐AGA
Gly2064Arg
6190G>A
G2064R
COL7A1
CM056567
GGA‐GAA
Gly2064Glu
6191G>A
G2064E
COL7A1
CM096528
GGA‐GTA
Gly2064Val
6191G>T
G2064V
COL7A1
CM093149
GGA‐GCA
Gly2067Ala
6200G>C
G2067A
COL7A1
CM060929
GGA‐AGA
Gly2067Arg
6199G>A
G2067R
COL7A1
CM033763
CGT‐TGT
Arg2069Cys
6205C>T
R2069C
COL7A1
CM032557
GGA‐AGA
Gly2070Arg
6208G>A
G2070R
COL7A1
CM023057
GGA‐GAA
Gly2070Glu
6209G>A
G2070E
COL7A1
CM960410
GGC‐GAC
Gly2073Asp
6218G>A
G2073D
COL7A1
CM063916
GGC‐GTC
Gly2073Val
6218G>T
G2073V
COL7A1
CM970382
GGC‐GAC
Gly2076Asp
6227G>A
G2076D
COL7A1
CM097499
GGC‐GTC
Gly2076Val
6227G>T
G2076V
COL7A1
CM990417
GGA‐AGA
Gly2079Arg
6235G>A
G2079R
COL7A1
CM970383
GGA‐GAA
Gly2079Glu
6236G>A
G2079E
COL7A1
CM096529
GGA‐GTA
Gly2079Val
6236G>T
G2079V
COL7A1
CM071640
GGA‐GTA
Gly2082Val
6245G>T
G2082V
COL7A1
CM107558
GGA‐AGA
Gly2088Arg
6262G>A
G2088R
COL7A1
CM063915
GGA‐GAA
Gly2088Glu
6263G>A
G2088E
COL7A1
CM992850
GGT‐GAT
Gly2132Asp
6395G>A
G2132D
COL7A1
CM096530
GGT‐AGT
Gly2132Ser
6394G>A
G2132S
COL7A1
CM060936
CAG‐TAG
Gln2170Term
6508C>T
Q2170*
COL7A1
CM112244
GGA‐GAA
Gly2186Glu
6557G>A
G2186E
COL7A1
CM122301
GGT‐GTT
Gly2189Val
6566G>T
G2189V
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Hamada (2009) J Dermatol Sci 54:212
PubMed 19269793
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Chao (2007) J Formos Med Assoc 106:86
PubMed 17282977
Escámez (2010) Br J Dermatol 163:155
PubMed 20184583
Hovnanian (1997) Am J Hum Genet 61:599
PubMed 9326325
Hovnanian (1997) Am J Hum Genet 61:599
PubMed 9326325
Rouan (1998) J Invest Dermatol 111:1210
PubMed 9856843
Sawamura (2005) J Hum Genet 50:543
PubMed 16189623
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Almaani (2009) Acta Derm Venereol 89:6
Posteraro (2005) Biochem Biophys Res Commun 338:1391
PubMed 19197535
Kahofer (2003) Pediatr Dermatol 20:243
PubMed 12787275
Zhang (2003) Clin Exp Dermatol 28:437
PubMed 12823310
Gardella (2002) J Invest Dermatol 119:1456
PubMed 12485454
Dunnill (1996) J Invest Dermatol 107:171
PubMed 8757758
Drera (2006) Clin Genet 70:339
PubMed 16965329
Kon (1997) J Invest Dermatol 109:684
van den Akker (2009) Genet Test Mol Biomarkers 13:589
PubMed 9347800
PubMed 19814614
Christiano (1999) Exp Dermatol 8:146
PubMed 10232408
Kon (1997) J Invest Dermatol 108:224
PubMed 9008239
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Varki (2007) J Med Genet 44:181
PubMed 16971478
Chiaverini (2010) J Invest Dermatol 130:2508
PubMed 20555349
Suzuki (2006) Br J Dermatol 155:838
PubMed 16965439
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Wertheim‐Tysarowska (2012) Eur J Dermatol 22:23
PubMed 22266148
PubMed 16271705
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM992851
GGT‐AGT
Gly2192Ser
6574G>A
G2192S
COL7A1
CM034953
GGC‐AGC
Gly2204Ser
6610G>A
G2204S
COL7A1
CM992852
GGG‐AGG
Gly2207Arg
6619G>A
G2207R
COL7A1
CM071641
GGA‐GTA
Gly2210Val
6629G>T
G2210V
COL7A1
CM970384
GGA‐TGA
Gly2216Term
6646G>T
G2216*
COL7A1
HM090016
GGA‐GCA
Gly2221Ala
6662G>C
G2221A
COL7A1
CM112257
GGA‐AGA
Gly2221Arg
6661G>A
G2221R
COL7A1
CM014332
GTG‐GAG
Val2226Glu
6677T>A
V2226E
COL7A1
CM112245
GGA‐AGA
Gly2227Arg
6679G>A
G2227R
COL7A1
CM014333
CCT‐TCT
Pro2229Ser
6685C>T
P2229S
COL7A1
CM096531
GGA‐GAA
Gly2230Glu
6689G>A
G2230E
COL7A1
CM014334
CCC‐CGC
Pro2232Arg
6695C>G
P2232R
COL7A1
CM014335
GGC‐TGC
Gly2233Cys
6697G>T
G2233C
COL7A1
CM005547
GGC‐AGC
Gly2233Ser
6697G>A
G2233S
COL7A1
CM992853
GGT‐GAT
Gly2239Asp
6716G>A
G2239D
COL7A1
CM112246
GGT‐GTT
Gly2239Val
6716G>T
G2239V
COL7A1
CM970385
GGG‐AGG
Gly2242Arg
6724G>A
G2242R
COL7A1
CM992854
GGG‐GAG
Gly2242Glu
6725G>A
G2242E
COL7A1
CM096532
CAA‐TAA
Gln2249Term
6745C>T
Q2249*
COL7A1
CM071647
GGG‐GCG
Gly2251Ala
6752G>C
G2251A
COL7A1
CM071639
GGA‐GCA
Gly2257Ala
6770G>C
G2257A
COL7A1
CM112247
GGT‐GAT
Gly2260Asp
6779G>A
G2260D
COL7A1
CM033764
CGA‐TGA
Arg2261Term
6781C>T
R2261*
COL7A1
CM992855
GGT‐GTT
Gly2263Val
6788G>T
G2263V
COL7A1
CM071633
GGT‐TGT
Gly2281Cys
6841G>T
G2281C
COL7A1
CM990418
GGA‐AGA
Gly2287Arg
6859G>A
G2287R
COL7A1
CM056944
GGA‐GTA
Gly2287Val
6860G>T
G2287V
COL7A1
CM104440
GGG‐GAG
Gly2296Glu
6887G>A
G2296E
COL7A1
CM096533
AAG‐AAC
Lys2309Asn
6927G>C
K2309N
COL7A1
CM990419
GGA‐AGA
Gly2316Arg
6946G>A
G2316R
Epidermolysis bullosa dystrophica
Whittock (1999) J Invest Dermatol 113:673
Epidermolysis bullosa dystrophica
Kim (2003) J Dermatol Sci 33:180
Epidermolysis bullosa dystrophica
Whittock (1999) J Invest Dermatol 113:673
Epidermolysis bullosa dystrophica
Varki (2007) J Med Genet 44:181
Epidermolysis bullosa dystrophica
Hovnanian (1997) Am J Hum Genet 61:599
Epidermolysis bullosa dystrophica
García (2010) Hum Genet 127:116
Epidermolysis bullosa dystrophica
Almaani (2011) Acta Derm Venereol 91:262
Epidermolysis bullosa dystrophica
Ryoo (2001) J Dermatol Sci 26:125
Epidermolysis bullosa dystrophica
Almaani (2011) Acta Derm Venereol 91:262
Epidermolysis bullosa dystrophica
Ryoo (2001) J Dermatol Sci 26:125
Epidermolysis bullosa dystrophica
Kern (2009) Br J Dermatol 161:1089
Epidermolysis bullosa dystrophica
Ryoo (2001) J Dermatol Sci 26:125
Epidermolysis bullosa dystrophica
Ryoo (2001) J Dermatol Sci 26:125
Epidermolysis bullosa dystrophica
Salas‐Alanis (2000) Int J Dermatol 39:436
Epidermolysis bullosa dystrophica
Whittock (1999) J Invest Dermatol 113:673
Epidermolysis bullosa dystrophica
Almaani (2011) Acta Derm Venereol 91:262
Epidermolysis bullosa dystrophica
Lee (1997) J Invest Dermatol 108:947
Epidermolysis bullosa dystrophica
Whittock (1999) J Invest Dermatol 113:673
Epidermolysis bullosa dystrophica
Kern (2009) Br J Dermatol 161:1089
Epidermolysis bullosa dystrophica
Varki (2007) J Med Genet 44:181
Epidermolysis bullosa dystrophica
Varki (2007) J Med Genet 44:181
Epidermolysis bullosa dystrophica
Almaani (2011) Acta Derm Venereol 91:262
Epidermolysis bullosa dystrophica
Sato‐Matsumura (2003) Acta Derm Venereol 83:137
Epidermolysis bullosa dystrophica
Whittock (1999) J Invest Dermatol 113:673
Epidermolysis bullosa dystrophica
Varki (2007) J Med Genet 44:181
Epidermolysis bullosa dystrophica
Shimizu (1999) J Invest Dermatol 113:419
Epidermolysis bullosa Posteraro (2005) Biochem Biophys Res Commun dystrophica
338:1391
Epidermolysis bullosa dystrophica
Jerábková (2010) J Dermatol Sci 59:136
Epidermolysis bullosa dystrophica
Kern (2009) Br J Dermatol 161:1089
Epidermolysis bullosa dystrophica
Shimizu (1999) J Invest Dermatol 113:419
PubMed 10504458
PubMed 14643524
PubMed 10504458
PubMed 16971478
PubMed 9326325
Source: Online submission
PubMed 21448560
PubMed 11378329
PubMed 21448560
PubMed 11378329
PubMed 19681861
PubMed 11378329
PubMed 11378329
PubMed 10944088
PubMed 10504458
PubMed 21448560
PubMed 9182828
PubMed 10504458
PubMed 19681861
PubMed 16971478
PubMed 16971478
PubMed 21448560
PubMed 12735646
PubMed 10504458
PubMed 16971478
PubMed 10469344
PubMed 16271705
PubMed 20598510
PubMed 19681861
PubMed 10469344
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM060944
GGT‐GAT
Gly2330Asp
6989G>A
G2330D
COL7A1
CM031665
CGA‐TGA
Arg2332Term
6994C>T
R2332*
COL7A1
CM993730
GGG‐CGG
Gly2348Arg
7042G>C
G2348R
COL7A1
CM960411
GGA‐AGA
Gly2351Arg
7051G>A
G2351R
COL7A1
CM112258
GGT‐CGT
Gly2357Arg
7069G>C
G2357R
COL7A1
CM071654
GGT‐AGT
Gly2357Ser
7069G>A
G2357S
COL7A1
CM071648
GGG‐GCG
Gly2360Ala
7079G>C
G2360A
COL7A1
CM112264
GGG‐AGG
Gly2360Arg
7078G>A
G2360R
COL7A1
CM103727
GGT‐GAT
Gly2366Asp
7097G>A
G2366D
COL7A1
CM056566
GGT‐TGT
Gly2366Cys
7096G>T
G2366C
COL7A1
CM990420
GGT‐AGT
Gly2366Ser
7096G>A
G2366S
COL7A1
CM112259
GGA‐GTA
Gly2372Val
7115G>T
G2372V
COL7A1
CM068585
GGC‐AGC
Gly2377Ser
7129G>A
G2377S
COL7A1
CM083609
GGC‐GAC
Gly2392Asp
7175G>A
G2392D
COL7A1
CM992856
GGC‐GAC
Gly2395Asp
7184G>A
G2395D
COL7A1
CM070875
GGC‐AGC
Gly2410Ser
7228G>A
G2410S
COL7A1
CM120662
CGA‐TGA
Arg2412Term
7234C>T
R2412*
COL7A1
CM095161
GGA‐AGA
Gly2413Arg
7237G>A
G2413R
COL7A1
CM060938
GGA‐GAA
Gly2413Glu
7238G>A
G2413E
COL7A1
CM097500
GGA‐TGA
Gly2413Term
7237G>T
G2413*
COL7A1
CM992857
CAG‐TAG
Gln2417Term
7249C>T
Q2417*
COL7A1
CM067367
GGA‐GTA
Gly2422Val
7265G>T
G2422V
COL7A1
CM070881
GAG‐GGG
Glu2423Gly
7268A>G
E2423G
COL7A1
CM112248
GGC‐GAC
Gly2428Asp
7283G>A
G2428D
COL7A1
CM071632
GGG‐AGG
Gly2431Arg
7291G>A
G2431R
COL7A1
HM080096
GGA‐AGA
Gly2434Arg
7300G>A
G2434R
COL7A1
CM070877
CCC‐CTC
Pro2438Leu
7313C>T
P2438L
COL7A1
CM096534
GGA‐AGA
Gly2449Arg
7345G>A
G2449R
COL7A1
CM960412
CGA‐TGA
Arg2471Term
7411C>T
R2471*
COL7A1
CM071631
GGC‐CGC
Gly2472Arg
7414G>C
G2472R
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Abu Sa'd (2006) J Invest Dermatol 126:777
PubMed 16439963
Pfendner (2003) Prenat Diagn 23:447
PubMed 12813757
Cserhalmi‐Friedman (1999) Exp Dermatol 8:143
PubMed 10232407
Christiano (1996) Am J Hum Genet 58:682
PubMed 8644730
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Varki (2007) J Med Genet 44:181
PubMed 16971478
Varki (2007) J Med Genet 44:181
PubMed 16971478
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Escámez (2010) Br J Dermatol 163:155
PubMed 20184583
Sawamura (2005) J Hum Genet 50:543
PubMed 16189623
Hashimoto (1999) Exp Dermatol 8:140
PubMed 10232406
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Fassihi (2006) J Dermatol Sci 42:241
PubMed 16500083
Saito (2008) J Dermatol Sci 52:13
PubMed 18440202
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Varki (2007) J Med Genet 44:181
PubMed 16971478
Rodríguez (2012) J Dermatol Sci 65:149
PubMed 22209565
van den Akker (2009) J Dermatol Sci 56:9
PubMed 19665875
Kern (2006) J Invest Dermatol 126:1006
van den Akker (2009) Genet Test Mol Biomarkers 13:589
PubMed 16484981
PubMed 19814614
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Kraemer (2006) Eur J Dermatol 16:615
PubMed 17229600
Varki (2007) J Med Genet 44:181
PubMed 16971478
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Varki (2007) J Med Genet 44:181
PubMed 16971478
Cuadrado‐Corrales (2009) Hum Genet 126:334
Source: Online submission
Varki (2007) J Med Genet 44:181
PubMed 16971478
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Christiano (1996) Am J Hum Genet 58:671
PubMed 8644729
Varki (2007) J Med Genet 44:181
PubMed 16971478
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM107559
GGC‐GAC
Gly2472Asp
7415G>A
G2472D
COL7A1
CM070876
CAG‐TAG
Gln2488Term
7462C>T
Q2488*
COL7A1
CM023058
CGA‐TGA
Arg2492Term
7474C>T
R2492*
COL7A1
CM112249
GGT‐GAT
Gly2508Asp
7523G>A
G2508D
COL7A1
CM112250
GGT‐GAT
Gly2517Asp
7550G>A
G2517D
COL7A1
CM103726
GGA‐GTA
Gly2520Val
7559G>T
G2520V
COL7A1
CM096535
GGT‐GAT
Gly2533Asp
7598G>A
G2533D
COL7A1
CM096536
CGA‐TGA
Arg2541Term
7621C>T
R2541*
COL7A1
CM104437
GGG‐AGG
Gly2557Arg
7669G>A
G2557R
COL7A1
CM960413
GGT‐CGT
Gly2569Arg
7705G>C
G2569R
COL7A1
CM107209
GGT‐TGT
Gly2569Cys
7705G>T
G2569C
COL7A1
CM096537
GGT‐AGT
Gly2569Ser
7705G>A
G2569S
COL7A1
CM960414
GGG‐AGG
Gly2575Arg
7723G>A
G2575R
COL7A1
CM1110262
GGA‐AGA
Gly2581Arg
7741G>A
G2581R
COL7A1
CM103728
GGT‐GAT
Gly2587Asp
7760G>A
G2587D
COL7A1
CM095162
GGT‐GAT
Gly2590Asp
7769G>A
G2590D
COL7A1
CM071629
GGA‐AGA
Gly2602Arg
7804G>A
G2602R
COL7A1
CM095164
GGA‐GAA
Gly2602Glu
7805G>A
G2602E
COL7A1
CM970386
CGA‐TGA
Arg2610Term
7828C>T
R2610*
COL7A1
CM112260
GGT‐GTT
Gly2620Val
7859G>T
G2620V
COL7A1
CM071635
CGG‐CAG
Arg2622Gln
7865G>A
R2622Q
COL7A1
CM023059
CGG‐TGG
Arg2622Trp
7864C>T
R2622W
COL7A1
CM071644
GGC‐GAC
Gly2623Asp
7868G>A
G2623D
COL7A1
CM063917
GGC‐AGC
Gly2623Ser
7867G>A
G2623S
COL7A1
CM083610
GGC‐GTC
Gly2623Val
7868G>T
G2623V
COL7A1
CM107557
CGG‐TGG
Arg2628Trp
7882C>T
R2628W
COL7A1
CM056946
GGA‐AGA
Gly2632Arg
7894G>A
G2632R
COL7A1
CM960415
GGG‐AGG
Gly2653Arg
7957G>A
G2653R
COL7A1
CM112261
GGA‐GTA
Gly2656Val
7967G>T
G2656V
COL7A1
CM096538
GAG‐TAG
Glu2663Term
7987G>T
E2663*
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Chiaverini (2010) J Invest Dermatol 130:2508
PubMed 20555349
Varki (2007) J Med Genet 44:181
PubMed 16971478
Gardella (2002) J Invest Dermatol 119:1456
PubMed 12485454
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Escámez (2010) Br J Dermatol 163:155
PubMed 20184583
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Jerábková (2010) J Dermatol Sci 59:136
PubMed 20598510
Christiano (1996) Am J Hum Genet 58:671
PubMed 8644729
Pendaries (2010) Gene Ther 17:930
PubMed 20376098
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Shimizu (1996) J Invest Dermatol 106:119
PubMed 8592061
Hanafusa (2011) Clin Exp Dermatol 37:10
PubMed 22007850
Escámez (2010) Br J Dermatol 163:155
PubMed 20184583
van den Akker (2009) J Dermatol Sci 56:9
PubMed 19665875
Varki (2007) J Med Genet 44:181
PubMed 16971478
van den Akker (2009) J Dermatol Sci 56:9
PubMed 19665875
Hovnanian (1997) Am J Hum Genet 61:599
PubMed 9326325
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Varki (2007) J Med Genet 44:181
PubMed 16971478
Gardella (2002) J Invest Dermatol 119:1456
PubMed 12485454
Varki (2007) J Med Genet 44:181
PubMed 16971478
Sawamura (2006) Br J Dermatol 155:834
PubMed 16965438
Schumann (2008) Br J Dermatol 159:464
PubMed 18565177
Chiaverini (2010) J Invest Dermatol 130:2508
Posteraro (2005) Biochem Biophys Res Commun 338:1391
PubMed 20555349
Christiano (1996) Am J Hum Genet 58:671
PubMed 8644729
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
PubMed 16271705
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM970387
GGG‐GTG
Gly2671Val
8012G>T
G2671V
COL7A1
CM960416
GGC‐CGC
Gly2674Arg
8020G>C
G2674R
COL7A1
CM992858
GGC‐GAC
Gly2674Asp
8021G>A
G2674D
COL7A1
CM112251
GGT‐GAT
Gly2680Asp
8039G>A
G2680D
COL7A1
CM122300
GGT‐AGT
Gly2680Ser
8038G>A
G2680S
COL7A1
CM990422
CGA‐TGA
Arg2685Term
8053C>T
R2685*
COL7A1
CM060933
GGG‐AGG
Gly2689Arg
8065G>A
G2689R
COL7A1
CM980413
GGC‐GAC
Gly2713Asp
8138G>A
G2713D
COL7A1
CM071645
GGC‐GCC
Gly2719Ala
8156G>C
G2719A
COL7A1
CM093699
GGC‐GAC
Gly2719Asp
8156G>A
G2719D
COL7A1
CM112252
GGT‐CGT
Gly2722Arg
8164G>C
G2722R
COL7A1
CM070883
GGG‐GAG
Gly2725Glu
8174G>A
G2725E
COL7A1
CM122304
GGC‐GAC
Gly2734Asp
8201G>A
G2734D
COL7A1
CM083607
GAA‐AAA
Glu2736Lys
8206G>A
E2736K
COL7A1
CM060930
GGA‐CGA
Gly2737Arg
8209G>C
G2737R
COL7A1
CM992859
GGC‐GCC
Gly2740Ala
8219G>C
G2740A
COL7A1
CM112253
GGT‐CGT
Gly2743Arg
8227G>C
G2743R
COL7A1
CM096539
CGA‐TGA
Arg2745Term
8233C>T
R2745*
COL7A1
CM960417
GGA‐AGA
Gly2749Arg
8245G>A
G2749R
COL7A1
CM980414
GGT‐AGT
Gly2775Ser
8323G>A
G2775S
COL7A1
CM096540
CGA‐TGA
Arg2777Term
8329C>T
R2777*
COL7A1
CM144472
GGC‐GAC
Gly2778Asp
8333G>A
G2778D
COL7A1
CM112262
GGA‐AGA
Gly2781Arg
8341G>A
G2781R
COL7A1
CM992860
CGG‐TGG
Arg2791Trp
8371C>T
R2791W
COL7A1
CM120663
ATG‐AGG
Met2798Arg
8393T>G
M2798R
COL7A1
CM960418
CGA‐TGA
Arg2814Term
8440C>T
R2814*
COL7A1
CM022342
CAG‐TAG
Gln2827Term
8479C>T
Q2827*
COL7A1
CM960419
GAG‐TAG
Glu2857Term
8569G>T
E2857*
COL7A1
CM056568
TGT‐TTT
Cys2876Phe
8627G>T
C2876F
COL7A1
CM1110261
GAG‐AAG
Glu2882Lys
8644G>A
E2882K
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Kon (1997) J Invest Dermatol 108:224
PubMed 9008239
Christiano (1996) Am J Hum Genet 58:671
PubMed 8644729
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Wertheim‐Tysarowska (2012) Eur J Dermatol 22:23
PubMed 22266148
Gardella (1999) Hum Mutat 13:439
PubMed 10408773
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Rouan (1998) J Invest Dermatol 111:1210
PubMed 9856843
Fassihi (2006) J Dermatol Sci 42:241
PubMed 16500083
Riedl (2009) Pediatr Dermatol 26:115
PubMed 19250433
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Varki (2007) J Med Genet 44:181
PubMed 16971478
Wertheim‐Tysarowska (2012) Eur J Dermatol 22:23
PubMed 22266148
Schumann (2008) Br J Dermatol 159:464
PubMed 18565177
Kern (2006) J Invest Dermatol 126:1006
PubMed 16484981
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Christiano (1996) Am J Hum Genet 58:671
PubMed 8644729
Kon (1998) J Invest Dermatol 111:534
PubMed 9740253
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Chiaverini (2014) Br J Dermatol 170:901
PubMed 24252097
Almaani (2011) Acta Derm Venereol 91:262
PubMed 21448560
Whittock (1999) J Invest Dermatol 113:673
PubMed 10504458
Rodríguez (2012) J Dermatol Sci 65:149
PubMed 22209565
Christiano (1996) Mol Med 2:59
PubMed 8900535
Sato‐Matsumura (2002) Arch Dermatol 138:269
PubMed 11843659
Shimizu (1996) J Invest Dermatol 106:119
PubMed 8592061
Sawamura (2005) J Hum Genet 50:543
PubMed 16189623
Hanafusa (2011) Clin Exp Dermatol 37:10
PubMed 22007850
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM096541
CGT‐TGT
Arg2922Cys
8764C>T
R2922C
COL7A1
CM070880
CGC‐CAC
Arg2927His
8780G>A
R2927H
COL7A1
CM111403
GAG‐TAG
Glu455Term
1363G>T
E455*
COL7A1
CM111399
GGT‐CGT
Gly1649Arg
4945G>C
G1649R
COL7A1
CM111400
GGT‐GCT
Gly1761Ala
5282G>C
G1761A
COL7A1
CM111401
GGG‐GCG
Gly2272Ala
6815G>C
G2272A
COL7A1
CM111402
GGG‐CGG
Gly2689Arg
8065G>C
G2689R
COL7A1
CM080161
GGT‐GAT
Gly1700Asp
5099G>A
G1700D
COL7A1
CM111641
AGA‐GGA
Arg28Gly
82A>G
R28G
COL7A1
CM131120
GGA‐GAA
Gly1676Glu
5027G>A
G1676E
COL7A1
CM093144
GGT‐GAT
Gly1770Asp
5309G>A
G1770D
COL7A1
CM117845
GGT‐CGT
Gly1773Arg
5317G>C
G1773R
COL7A1
CM990414
GGG‐GAG
Gly1791Glu
5372G>A
G1791E
COL7A1
CM093146
GGA‐AGA
Gly1860Arg
5578G>A
G1860R
COL7A1
CM093147
GGT‐CGT
Gly1913Arg
5737G>C
G1913R
COL7A1
CM135425
CAG‐CGG
Gln2072Arg
6215A>G
Q2072R
COL7A1
CM093150
GGT‐GAT
Gly2159Asp
6476G>A
G2159D
COL7A1
CM093151
GGA‐AGA
Gly2213Arg
6637G>A
G2213R
COL7A1
CM097895
GGG‐TGG
Gly2242Trp
6724G>T
G2242W
COL7A1
CM131119
GGT‐CGT
Gly2245Arg
6733G>C
G2245R
COL7A1
CM131117
GGT‐GTT
Gly2245Val
6734G>T
G2245V
COL7A1
CM093153
GGA‐GCA
Gly2290Ala
6869G>C
G2290A
COL7A1
CM124809
GGC‐CGC
Gly2293Arg
6877G>C
G2293R
COL7A1
CM111642
GGT‐GCT
Gly2366Ala
7097G>C
G2366A
COL7A1
CM040989
GGT‐GTT
Gly2366Val
7097G>T
G2366V
COL7A1
CM990421
GGT‐AGT
Gly2369Ser
7105G>A
G2369S
COL7A1
CM124810
GGT‐GTT
Gly2416Val
7247G>T
G2416V
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica, inversus type
Epidermolysis bullosa dystrophica, inversus type
Epidermolysis bullosa dystrophica, inversus type
Epidermolysis bullosa dystrophica, inversus type
Epidermolysis bullosa dystrophica, inversus type
Epidermolysis bullosa dystrophica, Pasini type
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Kern (2009) Br J Dermatol 161:1089
PubMed 19681861
Varki (2007) J Med Genet 44:181
PubMed 16971478
van den Akker (2011) J Med Genet 48:160
PubMed 21113014
van den Akker (2011) J Med Genet 48:160
PubMed 21113014
van den Akker (2011) J Med Genet 48:160
PubMed 21113014
van den Akker (2011) J Med Genet 48:160
PubMed 21113014
van den Akker (2011) J Med Genet 48:160
PubMed 21113014
Deng (2008) J Dermatol Sci 49:166
PubMed 17900868
Pruneddu (2011) Dermatology 222:10
PubMed 21196708
Tang (2013) Clin Exp Dermatol 38:197
PubMed 23397949
Almaani (2009) Acta Derm Venereol 89:6
PubMed 19197535
Jiang (2011) Acta Derm Venereol epub:epub
PubMed 21879237
Mellerio (1999) J Invest Dermatol 112:984
PubMed 10383749
Almaani (2009) Acta Derm Venereol 89:6
PubMed 19197535
Almaani (2009) Acta Derm Venereol 89:6
PubMed 19197535
Vivehanantha (2013) JAMA Dermatol 149:727
PubMed 23616197
Almaani (2009) Acta Derm Venereol 89:6
PubMed 19197535
Almaani (2009) Acta Derm Venereol 89:6
PubMed 19197535
Shi (2009) Clin Exp Dermatol 34:e975
PubMed 19486043
Tang (2013) Clin Exp Dermatol 38:197
PubMed 23397949
Tang (2013) Clin Exp Dermatol 38:197
PubMed 23397949
Almaani (2009) Acta Derm Venereol 89:6
PubMed 19197535
Brick (2012) Pediatr Dermatol epub:epub
PubMed 23106673
Pruneddu (2011) Dermatology 222:10
PubMed 21196708
Chuang (2004) Clin Exp Dermatol 29:304
PubMed 15115517
Mellerio (1999) J Invest Dermatol 112:984
PubMed 10383749
Brick (2012) Pediatr Dermatol epub:epub
PubMed 23106673
www.ngpd.it
Elenco mutazioni NGPD
COL7A1
CM072966
GGT‐GAT
Gly2626Asp
7877G>A
G2626D
COL7A1
CM117846
GGG‐TGG
Gly2701Trp
8101G>T
G2701W
COL7A1
CM990423
GGC‐CGC
Gly2713Arg
8137G>C
G2713R
COL7A1
CM135293
GGG‐GTG
Gly2034Val
6101G>T
G2034V
COL7A1
CM072965
CGT‐CAT
Arg2008His
6023G>A
R2008H
CRTAP
CM067661
ATG‐ATA
Met1Ile
3G>A
M1I
CRTAP
CM098071
GCG‐GAG
Ala13Glu
38C>A
A13E
CRTAP
CM098070
TAC‐TAA
Tyr66Term
198C>A
Y66*
CRTAP
CM086807
CTG‐CCG
Leu67Pro
200T>C
L67P
CRTAP
CM098072
AAG‐GAG
Lys157Glu
469A>G
K157E
CRTAP
CM1210078
TAT‐TAG
Tyr187Term
561T>G
Y187*
CRTAP
CM067660
CAG‐TAG
Gln276Term
826C>T
Q276*
DHCR7
CM004033
ATG‐ATA
Met1Ile
3G>A
M1I
DHCR7
CM051450
ATG‐GTG
Met1Val
1A>G
M1V
DHCR7
CM076151
GGC‐GCC
Gly30Ala
89G>C
G30A
DHCR7
CM123139
CGT‐TGT
Arg31Cys
91C>T
R31C
DHCR7
CM001121
TGG‐TGA
Trp37Term
111G>A
W37*
DHCR7
CM051451
GCC‐GAC
Ala50Asp
149C>A
A50D
DHCR7
CM121701
GCC‐GTC
Ala50Val
149C>T
A50V
DHCR7
CM053200
CCC‐CAC
Pro51His
152C>A
P51H
DHCR7
CM980542
CCC‐TCC
Pro51Ser
151C>T
P51S
DHCR7
CM004034
ATG‐AGG
Met59Arg
176T>G
M59R
DHCR7
CM004035
GAC‐GTC
Asp62Val
185A>T
D62V
DHCR7
CM042971
CTG‐CCG
Leu68Pro
203T>C
L68P
DHCR7
CM121702
GGC‐TGC
Gly70Cys
208G>T
G70C
DHCR7
CM980543
ACG‐ATG
Thr93Met
278C>T
T93M
DHCR7
CM051034
CAG‐TAG
Gln98Term
292C>T
Q98*
DHCR7
CM980544
CTC‐CCC
Leu99Pro
296T>C
L99P
DHCR7
CM003135
CAG‐CAC
Gln107His
321G>C
Q107H
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa, pretibial
Wang (2007) J Dermatol Sci 46:211
PubMed 17336503
Jiang (2011) Acta Derm Venereol epub:epub
PubMed 21879237
Mellerio (1999) J Invest Dermatol 112:984
PubMed 10383749
Liu (2013) Gene 524:377
PubMed 23624125
Epidermolysis bullosa, recessive dystrophic
Wong (2006) Br J Dermatol 155:S1‐28
Osteogenesis imperfecta, recessive
Barnes (2006) N Engl J Med 355:2757
Osteogenesis imperfecta, recessive
Van Dijk (2009) Eur J Hum Genet 17:1560
Osteogenesis imperfecta, recessive
Van Dijk (2009) Eur J Hum Genet 17:1560
Osteogenesis imperfecta, recessive
Baldridge (2008) Hum Mutat 29:1435
Osteogenesis imperfecta, recessive
Van Dijk (2009) Eur J Hum Genet 17:1560
Osteogenesis imperfecta, autosomal recessive
Shaheen (2012) J Med Genet 49:630
Osteogenesis imperfecta, recessive
Barnes (2006) N Engl J Med 355:2757
Smith‐Lemli‐Opitz syndrome
Waterham (2000) Biochim Biophys Acta 1529:340
Smith‐Lemli‐Opitz syndrome
Witsch‐Baumgartner (2005) Hum Mutat 25:412
Smith‐Lemli‐Opitz syndrome
Blahakova (2007) J Inherit Metab Dis 30:964
Smith‐Lemli‐Opitz syndrome
Nowaczyk (2012) Am J Med Genet A 158A:1020
Smith‐Lemli‐Opitz syndrome
Yu (2000) Hum Mol Genet 9:1385
Smith‐Lemli‐Opitz syndrome
Witsch‐Baumgartner (2005) Hum Mutat 25:412
Smith‐Lemli‐Opitz syndrome
Quélin (2012) Eur J Med Genet 55:81
Smith‐Lemli‐Opitz syndrome
Anstey (2005) Br J Dermatol 153:774
Smith‐Lemli‐Opitz syndrome
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
Smith‐Lemli‐Opitz syndrome
Waterham (2000) Biochim Biophys Acta 1529:340
Smith‐Lemli‐Opitz syndrome
Waterham (2000) Biochim Biophys Acta 1529:340
Smith‐Lemli‐Opitz syndrome
Ciara (2004) Clin Genet 66:517
Smith‐Lemli‐Opitz syndrome
Quélin (2012) Eur J Med Genet 55:81
Smith‐Lemli‐Opitz syndrome
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
Smith‐Lemli‐Opitz syndrome
Correa‐Cerro (2005) J Med Genet 42:350
Smith‐Lemli‐Opitz syndrome
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
Smith‐Lemli‐Opitz syndrome
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 16774583
PubMed 17192541
PubMed 19550437
PubMed 19550437
PubMed 18566967
PubMed 19550437
PubMed 23054245
PubMed 17192541
PubMed 11111101
PubMed 15776424
PubMed 17994283
PubMed 22438180
PubMed 10814720
PubMed 15776424
PubMed 22226660
PubMed 16181459
PubMed 9653161
PubMed 11111101
PubMed 11111101
PubMed 15521979
PubMed 22226660
PubMed 9653161
PubMed 15805162
PubMed 9653161
PubMed 10677299
www.ngpd.it
Elenco mutazioni NGPD
DHCR7
CM000679
CTT‐CCT
Leu109Pro
326T>C
L109P
DHCR7
CM052846
TCT‐TGT
Ser113Cys
338C>G
S113C
DHCR7
CM980545
CAT‐CTT
His119Leu
356A>T
H119L
DHCR7
CM1212088
TAC‐TGC
Tyr125Cys
374A>G
Y125C
DHCR7
CM129944
GTG‐TTG
Val134Leu
400G>T
V134L
DHCR7
CM052221
GGG‐GTG
Gly138Val
413G>T
G138V
DHCR7
CM052222
ATC‐CTC
Ile145Leu
433A>C
I145L
DHCR7
CM107539
AAT‐AAG
Asn146Lys
438T>G
N146K
DHCR7
CM000680
GGC‐GAC
Gly147Asp
440G>A
G147D
DHCR7
CM001122
CTG‐CGG
Leu148Arg
443T>G
L148R
DHCR7
CM004036
CAA‐TAA
Gln149Term
445C>T
Q149*
DHCR7
CM980546
TGG‐TAG
Trp151Term
452G>A
W151*
DHCR7
CM000681
TGG‐TGA
Trp151Term
453G>A
W151*
DHCR7
CM010030
ACG‐AGG
Thr154Arg
461C>G
T154R
DHCR7
CM000682
ACG‐ATG
Thr154Met
461C>T
T154M
DHCR7
CM980547
CTC‐CCC
Leu157Pro
470T>C
L157P
DHCR7
CM072986
TGG‐TGT
Trp158Cys
474G>T
W158C
DHCR7
CM001123
TTC‐ATC
Phe168Ile
502T>A
F168I
DHCR7
CM001124
TCG‐TTG
Ser169Leu
506C>T
S169L
DHCR7
CM051904
TTC‐TCC
Phe174Ser
521T>C
F174S
DHCR7
CM001125
GAC‐CAC
Asp175His
523G>C
D175H
DHCR7
CM002249
TGG‐CGG
Trp177Arg
529T>C
W177R
DHCR7
CM010031
ATC‐AAC
Ile178Asn
533T>A
I178N
DHCR7
CM015393
ATC‐TTC
Ile178Phe
532A>T
I178F
DHCR7
CM001126
CCA‐CTA
Pro179Leu
536C>T
P179L
DHCR7
CM001127
TGG‐TGC
Trp182Cys
546G>C
W182C
DHCR7
CM011934
TGG‐TTG
Trp182Leu
545G>T
W182L
DHCR7
CM011935
TGC‐TAC
Cys183Tyr
548G>A
C183Y
DHCR7
CM051452
TCC‐TTC
Ser192Phe
575C>T
S192F
DHCR7
CM129945
ACC‐CCC
Thr193Pro
577A>C
T193P
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Waye (2005) Hum Mutat 26:59
PubMed 15954111
Waterham (1998) Am J Hum Genet 63:329
PubMed 9683613
Balogh (2012) Mol Syndromol 3:215
Waterham (2012) Am J Med Genet C Semin Med Genet 160C:263
PubMed 23293579
PubMed 23042628
Waye (2005) Hum Mutat 26:59
PubMed 15954111
Waye (2005) Hum Mutat 26:59
PubMed 15954111
Jezela‐Stanek (2010) J Inherit Metab Dis epub:epub
PubMed 20556518
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
Waterham (2000) Biochim Biophys Acta 1529:340
PubMed 11111101
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
PubMed 9653161
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Witsch‐Baumgartner (2001) Eur J Hum Genet 9:45
PubMed 11175299
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
PubMed 9653161
Waye (2007) Prenat Diagn 27:638
PubMed 17441222
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Cardoso (2005) Mol Genet Metab 85:228
PubMed 15979035
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
Krakowiak (2000) Am J Med Genet 94:214
PubMed 10995508
Witsch‐Baumgartner (2001) Eur J Hum Genet 9:45
PubMed 11175299
Nowaczyk (2001) Clin Invest Med 24:311
PubMed 11767235
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Jira (2001) Ann Hum Genet 65:229
PubMed 11427181
Jira (2001) Ann Hum Genet 65:229
PubMed 11427181
Witsch‐Baumgartner (2005) Hum Mutat 25:412
Waterham (2012) Am J Med Genet C Semin Med Genet 160C:263
PubMed 15776424
PubMed 23042628
www.ngpd.it
Elenco mutazioni NGPD
DHCR7
CM011936
AAG‐GAG
Lys198Glu
592A>G
K198E
DHCR7
CM121700
AAA‐TAA
Lys210Term
628A>T
K210*
DHCR7
CM004037
TAC‐TAA
Tyr217Term
651C>A
Y217*
DHCR7
CM081229
TAC‐GAC
Tyr219Asp
655T>G
Y219D
DHCR7
CM051453
GAG‐AAG
Glu224Lys
670G>A
E224K
DHCR7
CM102314
CCT‐TCT
Pro227Ser
679C>T
P227S
DHCR7
CM129946
CCT‐ACT
Pro227Thr
679C>A
P227T
DHCR7
CM051454
CGG‐TGG
Arg228Trp
682C>T
R228W
DHCR7
CM046119
GAC‐TAC
Asp234Tyr
700G>T
D234Y
DHCR7
CM052223
TTC‐TCC
Phe235Ser
704T>C
F235S
DHCR7
CM990472
CGC‐TGC
Arg242Cys
724C>T
R242C
DHCR7
CM002250
CGC‐CAC
Arg242His
725G>A
R242H
DHCR7
CM001128
CCC‐CGC
Pro243Arg
728C>G
P243R
DHCR7
CM980548
GGG‐AGG
Gly244Arg
730G>A
G244R
DHCR7
CM980549
GCC‐GTC
Ala247Val
740C>T
A247V
DHCR7
CM023364
TGG‐CGG
Trp248Arg
742T>C
W248R
DHCR7
CM1010190
TGG‐TGC
Trp248Cys
744G>C
W248C
DHCR7
CM980550
TGG‐TGT
Trp248Cys
744G>T
W248C
DHCR7
CM057066
ATC‐AAC
Ile251Asn
752T>A
I251N
DHCR7
CM004038
ATC‐ATG
Ile251Met
753C>G
I251M
DHCR7
CM004039
AAC‐AGC
Asn252Ser
755A>G
N252S
DHCR7
CM034225
TCC‐GCC
Ser254Ala
760T>G
S254A
DHCR7
CM011937
TTC‐TTA
Phe255Leu
765C>A
F255L
DHCR7
CM010032
ATG‐GTG
Met270Val
808A>G
M270V
DHCR7
CM051455
GTC‐GGC
Val273Gly
818T>G
V273G
DHCR7
CM024770
AAC‐AAA
Asn274Lys
822C>A
N274K
DHCR7
CM020269
TAC‐TGC
Tyr280Cys
839A>G
Y280C
DHCR7
CM000683
GTG‐ATG
Val281Met
841G>A
V281M
DHCR7
CM001129
TTC‐TTA
Phe284Leu
852C>A
F284L
DHCR7
CM001130
AAC‐AAA
Asn287Lys
861C>A
N287K
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Jira (2001) Ann Hum Genet 65:229
PubMed 11427181
Quélin (2012) Eur J Med Genet 55:81
PubMed 22226660
Waterham (2000) Biochim Biophys Acta 1529:340
PubMed 11111101
Jezela‐Stanek (2008) Eur J Med Genet 51:124
PubMed 18249054
Witsch‐Baumgartner (2005) Hum Mutat 25:412
PubMed 15776424
Ko (2010) J Korean Med Sci 25:159
Waterham (2012) Am J Med Genet C Semin Med Genet 160C:263
PubMed 20052364
PubMed 23042628
Witsch‐Baumgartner (2005) Hum Mutat 25:412
PubMed 15776424
Nowaczyk (2004) Am J Med Genet A 125A:173
PubMed 14981719
Waye (2005) Hum Mutat 26:59
PubMed 15954111
Neklason (1999) Am J Med Genet 85:517
PubMed 10405455
Krakowiak (2000) Am J Med Genet 94:214
PubMed 10995508
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
Waterham (1998) Am J Hum Genet 63:329
PubMed 9683613
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
PubMed 9653161
Waye (2002) J Med Genet 39:e31
PubMed 12070263
Jezela‐Stanek (2010) J Inherit Metab Dis :
PubMed 20556518
Waterham (1998) Am J Hum Genet 63:329
PubMed 9683613
Romano (2005) Mol Diagn 9:201
PubMed 16392899
Waterham (2000) Biochim Biophys Acta 1529:340
PubMed 11111101
Waterham (2000) Biochim Biophys Acta 1529:340
PubMed 11111101
Goldenberg (2003) Arch Pediatr 10:4
PubMed 12818773
Jira (2001) Ann Hum Genet 65:229
PubMed 11427181
Witsch‐Baumgartner (2001) Eur J Hum Genet 9:45
PubMed 11175299
Witsch‐Baumgartner (2005) Hum Mutat 25:412
PubMed 15776424
Goldenberg (2003) Arch Pediatr 10:4
PubMed 12818773
Nowaczyk (2001) Clin Genet 59:375
PubMed 11453964
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
www.ngpd.it
Elenco mutazioni NGPD
DHCR7
CM010205
GAA‐AAA
Glu288Lys
862G>A
E288K
DHCR7
CM000684
ACC‐ATC
Thr289Ile
866C>T
T289I
DHCR7
CM052224
ATC‐ACC
Ile297Thr
890T>C
I297T
DHCR7
CM129947
CAT‐CGT
His299Arg
896A>G
H299R
DHCR7
CM051905
CAC‐CGC
His301Arg
902A>G
H301R
DHCR7
CM001131
TTC‐TTG
Phe302Leu
906C>G
F302L
DHCR7
CM056322
GGG‐AGG
Gly303Arg
907G>A
G303R
DHCR7
CM010206
GGC‐GAC
Gly307Asp
920G>A
G307D
DHCR7
CM010033
GGC‐AGC
Gly309Ser
925G>A
G309S
DHCR7
CM000685
TGT‐GGT
Cys311Gly
931T>G
C311G
DHCR7
CM000686
TGT‐TAT
Cys311Tyr
932G>A
C311Y
DHCR7
CM052225
CTT‐CGT
Leu317Arg
950T>G
L317R
DHCR7
CM002251
TAC‐AAC
Tyr318Asn
952T>A
Y318N
DHCR7
CM015394
ACG‐GCG
Thr319Ala
955A>G
T319A
DHCR7
CM004040
ACG‐ATG
Thr319Met
956C>T
T319M
DHCR7
CM123140
GGT‐CGT
Gly322Arg
964G>C
G322R
DHCR7
CM000687
TAC‐CAC
Tyr324His
970T>C
Y324H
DHCR7
CM980551
GTG‐TTG
Val326Leu
976G>T
V326L
DHCR7
CM000370
CCC‐CTC
Pro329Leu
986C>T
P329L
DHCR7
CM026012
GTG‐ATG
Val330Met
988G>A
V330M
DHCR7
CM002252
CTG‐CCG
Leu341Pro
1022T>C
L341P
DHCR7
CM052226
GGC‐CGC
Gly344Arg
1030G>C
G344R
DHCR7
CM051456
GGC‐AGC
Gly347Ser
1039G>A
G347S
DHCR7
CM000688
CGG‐CAG
Arg352Gln
1055G>A
R352Q
DHCR7
CM126267
CGG‐CTG
Arg352Leu
1055G>T
R352L
DHCR7
CM980552
CGG‐TGG
Arg352Trp
1054C>T
R352W
DHCR7
CM000689
GTG‐GCG
Val353Ala
1058T>C
V353A
DHCR7
CM004041
AAC‐GAC
Asn355Asp
1063A>G
N355D
DHCR7
CM042972
CTG‐CCG
Leu360Pro
1079T>C
L360P
DHCR7
CM143877
TTC‐TTG
Phe361Leu
1083C>G
F361L
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Witsch‐Baumgartner (2001) Hum Mutat 17:172
PubMed 11241839
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Waye (2005) Hum Mutat 26:59
Waterham (2012) Am J Med Genet C Semin Med Genet 160C:263
PubMed 15954111
Cardoso (2005) Mol Genet Metab 85:228
PubMed 15979035
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
Matsumoto (2005) J Hum Genet 50:353
PubMed 16044199
Witsch‐Baumgartner (2001) Hum Mutat 17:172
PubMed 11241839
Witsch‐Baumgartner (2001) Eur J Hum Genet 9:45
PubMed 11175299
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Scalco (2005) Am J Med Genet 136A:278
PubMed 15952211
Krakowiak (2000) Am J Med Genet 94:214
PubMed 10995508
Nowaczyk (2001) Clin Invest Med 24:311
PubMed 11767235
Waterham (2000) Biochim Biophys Acta 1529:340
PubMed 11111101
Nowaczyk (2012) Am J Med Genet A 158A:1020
PubMed 22438180
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
PubMed 9653161
Patrono (2000) Am J Med Genet 91:138
PubMed 10748414
Patrono (2002) Mol Cell Probes 16:315
PubMed 12270273
Krakowiak (2000) Am J Med Genet 94:214
PubMed 10995508
Waye (2005) Hum Mutat 26:59
PubMed 15954111
Witsch‐Baumgartner (2005) Hum Mutat 25:412
PubMed 15776424
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Al‐Owain (2012) Clin Genet 82:165
PubMed 21696385
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
PubMed 9653161
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Waterham (2000) Biochim Biophys Acta 1529:340
PubMed 11111101
Ciara (2004) Clin Genet 66:517
PubMed 15521979
Ellingson (2014) Clin Genet 85:495
PubMed 23790112
PubMed 23042628
www.ngpd.it
Elenco mutazioni NGPD
DHCR7
CM000690
CGC‐TGC
Arg362Cys
1084C>T
R362C
DHCR7
CM026013
CGC‐TGC
Arg363Cys
1087C>T
R363C
DHCR7
CM101164
GGG‐GTG
Gly366Val
1097G>T
G366V
DHCR7
CM000691
TGC‐CGC
Cys380Arg
1138T>C
C380R
DHCR7
CM000692
TGC‐AGC
Cys380Ser
1138T>A
C380S
DHCR7
CM980553
TGC‐TCC
Cys380Ser
1139G>C
C380S
DHCR7
CM000693
TGC‐TAC
Cys380Tyr
1139G>A
C380Y
DHCR7
CM129948
GTG‐GAG
Val396Glu
1187T>A
V396E
DHCR7
CM000694
TCG‐TTG
Ser397Leu
1190C>T
S397L
DHCR7
CM980554
CGC‐TGC
Arg404Cys
1210C>T
R404C
DHCR7
CM000695
CGC‐AGC
Arg404Ser
1210C>A
R404S
DHCR7
CM052227
CAC‐TAC
His405Tyr
1213C>T
H405Y
DHCR7
CM993334
AAC‐TAC
Asn407Tyr
1219A>T
N407Y
DHCR7
CM000696
TAC‐CAC
Tyr408His
1222T>C
Y408H
DHCR7
CM000697
GGC‐CGC
Gly410Arg
1228G>C
G410R
DHCR7
CM980555
GGC‐AGC
Gly410Ser
1228G>A
G410S
DHCR7
CM052228
CAC‐CCC
His426Pro
1277A>C
H426P
DHCR7
CM051457
TAC‐TGC
Tyr432Cys
1295A>G
Y432C
DHCR7
CM000698
CGC‐TGC
Arg443Cys
1327C>T
R443C
DHCR7
CM010034
CGC‐CAC
Arg443His
1328G>A
R443H
DHCR7
CM002253
TGC‐TAC
Cys444Tyr
1331G>A
C444Y
DHCR7
CM000699
CGG‐CAG
Arg446Gln
1337G>A
R446Q
DHCR7
CM129949
CGG‐TGG
Arg446Trp
1336C>T
R446W
DHCR7
CM000700
GAG‐CAG
Glu448Gln
1342G>C
E448Q
DHCR7
CM993335
GAG‐AAG
Glu448Lys
1342G>A
E448K
DHCR7
CM990473
CGC‐CTC
Arg450Leu
1349G>T
R450L
DHCR7
CM123366
TGC‐CGC
Cys451Arg
1351T>C
C451R
DHCR7
CM001132
TAC‐CAC
Tyr462His
1384T>C
Y462H
DHCR7
CM052229
GTG‐GCG
Val466Ala
1397T>C
V466A
DHCR7
CM118549
GTG‐ATG
Val466Met
1396G>A
V466M
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Patrono (2002) Mol Cell Probes 16:315
PubMed 12270273
Szabó (2010) Eur J Pediatr 169:121
PubMed 19365639
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
PubMed 9653161
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
Waterham (2012) Am J Med Genet C Semin Med Genet 160C:263
PubMed 10677299
PubMed 23042628
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
PubMed 9653161
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Waye (2005) Hum Mutat 26:59
PubMed 15954111
De Brasi (1999) Eur J Hum Genet 7:937
PubMed 10602371
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Fitzky (1998) Proc Natl Acad Sci U S A 95:8181
PubMed 9653161
Waye (2005) Hum Mutat 26:59
PubMed 15954111
Witsch‐Baumgartner (2005) Hum Mutat 25:412
PubMed 15776424
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
Witsch‐Baumgartner (2001) Eur J Hum Genet 9:45
PubMed 11175299
Krakowiak (2000) Am J Med Genet 94:214
PubMed 10995508
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
Waterham (2012) Am J Med Genet C Semin Med Genet 160C:263
PubMed 10677299
PubMed 23042628
Witsch‐Baumgartner (2000) Am J Hum Genet 66:402
PubMed 10677299
De Brasi (1999) Eur J Hum Genet 7:937
PubMed 10602371
Neklason (1999) Am J Med Genet 85:517
PubMed 10405455
Kalb (2012) Clin Genet 81:598
PubMed 22211794
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
Scalco (2005) Am J Med Genet 136A:278
PubMed 15952211
Bianconi (2011) Am J Med Genet A 155:2732
PubMed 21990131
www.ngpd.it
Elenco mutazioni NGPD
DHCR7
CM010207
CCT‐CTT
Pro467Leu
1400C>T
P467L
DHCR7
CM001133
CGC‐CCC
Arg469Pro
1406G>C
R469P
DHCR7
CM042973
CTG‐CAG
Leu470Gln
1409T>A
L470Q
DHCR7
CM051458
TTC‐TCC
Phe475Ser
1424T>C
F475S
DHCR7
CM056323
TAA‐CAA
Term476Gln
1426T>C
*476Q
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
Smith‐Lemli‐Opitz syndrome
DKC1
CM117596
ATC‐ATG
Ile38Met
114C>G
I38M
DKC1
CM128084
CAC‐CGC
His68Arg
203A>G
DKC1
CM117595
TCA‐TTA
Ser76Leu
227C>T
DKC1
DKC1
DKC1
DKC1
DKC1
CM060957
CM060954
CM060956
CM090172
CM060953
CCA‐CTA
ACA‐ATA
CAC‐CAA
AGT‐AAT
AAG‐AGG
Pro10Leu
Thr67Ile
His68Gln
Ser304Asn
Lys314Arg
29C>T
200C>T
204C>A
911G>A
941A>G
Witsch‐Baumgartner (2001) Hum Mutat 17:172
PubMed 11241839
Yu (2000) Hum Mol Genet 9:1385
PubMed 10814720
Ginat (2004) Mol Genet Metab 83:175
PubMed 15464432
Witsch‐Baumgartner (2005) Hum Mutat 25:412
PubMed 15776424
Matsumoto (2005) J Hum Genet 50:353
PubMed 16044199
Dyskeratosis congenita
Vulliamy (2011) PLoS One 6:e24383
PubMed 21931702
H68R
Dyskeratosis congenita
Carrillo (2012) Blood Cells Mol Dis 49:140
PubMed 22664374
S76L
Dyskeratosis congenita
Vulliamy (2011) PLoS One 6:e24383
PubMed 21931702
P10L
Dyskeratosis congenita with Hoyeraal‐
Hreidarsson syndrome
Vulliamy (2006) Blood 107:2680
PubMed 16332973
T67I
Dyskeratosis congenita with Hoyeraal‐
Hreidarsson syndrome
Vulliamy (2006) Blood 107:2680
PubMed 16332973
H68Q
Dyskeratosis congenita with Hoyeraal‐
Hreidarsson syndrome
Vulliamy (2006) Blood 107:2680
PubMed 16332973
S304N
Dyskeratosis congenita with Hoyeraal‐
Hreidarsson syndrome
Du (2009) Blood 113:309
PubMed 18931339
K314R
Dyskeratosis congenita with Hoyeraal‐
Hreidarsson syndrome
Vulliamy (2006) Blood 107:2680
PubMed 16332973
Vulliamy (2006) Blood 107:2680
PubMed 16332973
Knight (1999) Am J Hum Genet 65:50
PubMed 10364516
Wong (2004) Hum Genet 115:448
PubMed 15349768
Kanegane (2005) Br J Haematol 129:432
PubMed 15842668
Heiss (1998) Nat Genet 19:32
PubMed 9590285
Knight (1999) Am J Hum Genet 65:50
PubMed 10364516
Heiss (1998) Nat Genet 19:32
PubMed 9590285
Knight (1999) Am J Hum Genet 65:50
PubMed 10364516
DKC1
CM060959
GCA‐ACA
Ala386Thr
1156G>A
A386T
DKC1
CM990474
GCG‐GTG
Ala2Val
5C>T
A2V
DKC1
CM042697
CAA‐GAA
Gln31Glu
91C>G
Q31E
DKC1
CM058293
CAA‐AAA
Gln31Lys
91C>A
Q31K
DKC1
CM980559
TTT‐GTT
Phe36Val
106T>G
F36V
DKC1
CM990475
AAA‐GAA
Lys39Glu
115A>G
K39E
DKC1
CM980560
CCT‐CGT
Pro40Arg
119C>G
P40R
DKC1
CM990476
GAA‐AAA
Glu41Lys
121G>A
E41K
Dyskeratosis congenita with Hoyeraal‐
Hreidarsson syndrome
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
www.ngpd.it
Elenco mutazioni NGPD
DKC1
CM014177
AAA‐GAA
Lys43Glu
127A>G
K43E
DKC1
CM990477
AGG‐ACG
Arg65Thr
194G>C
R65T
DKC1
CM990478
ACA‐GCA
Thr66Ala
196A>G
T66A
DKC1
CM082598
CTT‐TTT
Leu72Phe
214C>T
L72F
DKC1
CM011312
CGG‐TGG
Arg158Trp
472C>T
R158W
DKC1
CM011313
AGT‐CGT
Ser280Arg
838A>C
S280R
DKC1
CM100590
CTT‐TTT
Leu317Phe
949C>T
L317F
DKC1
CM090173
CTT‐GTT
Leu317Val
949C>G
L317V
DKC1
CM990479
CTT‐GTT
Leu321Val
961C>G
L321V
DKC1
CM100591
CGA‐CAA
Arg322Gln
965G>A
R322Q
DKC1
CM990481
ATG‐ATA
Met350Ile
1050G>A
M350I
DKC1
CM034649
ATG‐ATC
Met350Ile
1050G>C
M350I
DKC1
CM990480
ATG‐ACG
Met350Thr
1049T>C
M350T
DKC1
CM990482
GCG‐GTG
Ala353Val
1058C>T
A353V
DKC1
CM115404
TCT‐CCT
Ser356Pro
1066T>C
S356P
DKC1
CM058294
ACC‐GCC
Thr357Ala
1069A>G
T357A
DKC1
CM060958
GAC‐AAC
Asp359Asn
1075G>A
D359N
DKC1
CM011314
CCA‐CTA
Pro384Leu
1151C>T
P384L
DKC1
CM990483
GGG‐AGG
Gly402Arg
1204G>A
G402R
DKC1
CM980561
GGG‐GAG
Gly402Glu
1205G>A
G402E
DKC1
CM060955
ACA‐ATA
Thr408Ile
1223C>T
T408I
DKC1
CM042338
CCT‐CTT
Pro409Leu
1226C>T
P409L
DNAH5
CM065118
CGA‐TGA
Arg78Term
232C>T
R78*
DNAH5
CM065130
TAT‐TAG
Tyr84Term
252T>G
Y84*
DNAH5
CM091929
CGA‐TGA
Arg224Term
670C>T
R224*
DNAH5
CM091930
ATT‐TTT
Ile370Phe
1108A>T
I370F
DNAH5
CM130284
ATA‐ACA
Ile374Thr
1121T>C
I374T
DNAH5
CM091937
TTT‐CTT
Phe540Leu
1618T>C
F540L
DNAH5
CM065124
CAG‐TAG
Gln543Term
1627C>T
Q543*
DNAH5
CM091931
AAC‐GAC
Asn549Asp
1645A>G
N549D
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Dyskeratosis congenita, X‐linked
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Heiss (2001) Genet Couns 12:129
PubMed 11491307
Knight (1999) Am J Hum Genet 65:50
PubMed 10364516
Hassock (1999) Genomics 55:21
PubMed 9888995
Hamidah (2008) Pediatr Blood Cancer 50:432
PubMed 17417794
Knight (2001) Hum Genet 108:299
PubMed 11379875
Knight (2001) Hum Genet 108:299
PubMed 11379875
Rostamiani (2010) Blood Cells Mol Dis 44:88
PubMed 19879169
Du (2009) Blood 113:309
PubMed 18931339
Knight (1999) Am J Hum Genet 65:50
PubMed 10364516
Rostamiani (2010) Blood Cells Mol Dis 44:88
PubMed 19879169
Knight (1999) Am J Hum Genet 65:50
PubMed 10364516
Kraemer (2003) Haematologica 88:ECR11
PubMed 12681984
Knight (1999) Am J Hum Genet 65:50
PubMed 10364516
Knight (1999) Am J Hum Genet 65:50
PubMed 10364516
Coelho (2011) Pediatr Dermatol 28:464
PubMed 21736606
Kanegane (2005) Br J Haematol 129:432
PubMed 15842668
Vulliamy (2006) Blood 107:2680
PubMed 16332973
Knight (2001) Hum Genet 108:299
PubMed 11379875
Knight (1999) Am J Hum Genet 65:50
PubMed 10364516
Heiss (1998) Nat Genet 19:32
PubMed 9590285
Vulliamy (2006) Blood 107:2680
PubMed 16332973
Ding (2004) J Invest Dermatol 123:470
PubMed 15304085
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Failly (2009) J Med Genet 46:281
PubMed 19357118
Failly (2009) J Med Genet 46:281
PubMed 19357118
Knowles (2013) Am J Hum Genet 92:99
PubMed 23261302
Failly (2009) J Med Genet 46:281
PubMed 19357118
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Failly (2009) J Med Genet 46:281
PubMed 19357118
www.ngpd.it
Elenco mutazioni NGPD
DNAH5
CM091932
GAT‐GGT
Asp556Gly
1667A>G
D556G
DNAH5
CM020270
CAG‐TAG
Gln610Term
1828C>T
Q610*
DNAH5
CM130285
GGG‐AGG
Gly1047Arg
3139G>A
G1047R
DNAH5
CM129166
CAG‐CAC
Gln1372His
4116G>C
Q1372H
DNAH5
CM137177
CAG‐TAG
Gln1413Term
4237C>T
Q1413*
DNAH5
CM091933
CAG‐TAG
Gln1450Term
4348C>T
Q1450*
DNAH5
CM020271
CGA‐CAA
Arg1454Gln
4361G>A
R1454Q
DNAH5
CM020272
CGA‐TGA
Arg1454Term
4360C>T
R1454*
DNAH5
BM1233243
CAG‐TAG
Gln1613Term
4837C>T
Q1613*
DNAH5
BM1274995
AAA‐AAC
Lys1710Asn
5130A>C
K1710N
DNAH5
CM065123
CGG‐CTG
Arg1716Leu
5147G>T
R1716L
DNAH5
CM091941
CGG‐TGG
Arg1716Trp
5146C>T
R1716W
DNAH5
CM065133
CGA‐TGA
Arg1761Term
5281C>T
R1761*
DNAH5
CM065131
CAG‐TAG
Gln1828Term
5482C>T
Q1828*
DNAH5
CM091936
AAA‐TAA
Lys1853Term
5557A>T
K1853*
DNAH5
CM091928
CGA‐TGA
Arg1883Term
5647C>T
R1883*
DNAH5
CM137158
CGA‐TGA
Arg1995Term
5983C>T
R1995*
DNAH5
CM065119
CGA‐TGA
Arg2013Term
6037C>T
R2013*
DNAH5
CM137157
TTT‐TCT
Phe2077Ser
6230T>C
F2077S
DNAH5
CM144216
TAT‐TAA
Tyr2151Term
6453T>A
Y2151*
DNAH5
CM065117
AGT‐AAT
Ser2264Asn
6791G>A
S2264N
DNAH5
CM065134
GAA‐AAA
Glu2347Lys
7039G>A
E2347K
DNAH5
BM1230713
CAA‐TAA
Gln2463Term
7387C>T
Q2463*
DNAH5
CM148008
CTG‐CCG
Leu2488Pro
7463T>C
L2488P
DNAH5
CM065122
CGG‐CCG
Arg2501Pro
7502G>C
R2501P
DNAH5
CM091942
AGG‐TGG
Arg2630Trp
7888A>T
R2630W
DNAH5
CM020273
CGA‐TGA
Arg2639Term
7915C>T
R2639*
DNAH5
CM065127
CGA‐TGA
Arg2677Term
8029C>T
R2677*
DNAH5
CM065125
CAG‐TAG
Gln2723Term
8167C>T
Q2723*
DNAH5
CM065120
CGA‐TGA
Arg2772Term
8314C>T
R2772*
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Failly (2009) J Med Genet 46:281
PubMed 19357118
Olbrich (2002) Nat Genet 30:143
PubMed 11788826
Knowles (2013) Am J Hum Genet 92:99
PubMed 23261302
Nakhleh (2012) Circulation 125:2232
PubMed 22499950
Zariwala (2013) Am J Hum Genet 93:336
PubMed 23891469
Failly (2009) J Med Genet 46:281
PubMed 19357118
Olbrich (2002) Nat Genet 30:143
PubMed 11788826
Olbrich (2002) Nat Genet 30:143
PubMed 11788826
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Failly (2009) J Med Genet 46:281
PubMed 19357118
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Failly (2009) J Med Genet 46:281
PubMed 19357118
Failly (2009) J Med Genet 46:281
PubMed 19357118
Zariwala (2013) Am J Hum Genet 93:336
PubMed 23891469
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Zariwala (2013) Am J Hum Genet 93:336
PubMed 23891469
Watson (2014) Hum Mutat 35:434
PubMed 24307375
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Kim (2014) Ann Am Thorac Soc 11:351
PubMed 24498942
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Failly (2009) J Med Genet 46:281
PubMed 19357118
Olbrich (2002) Nat Genet 30:143
PubMed 11788826
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
www.ngpd.it
Elenco mutazioni NGPD
DNAH5
CM122412
CGG‐CCG
Arg2799Pro
8396G>C
R2799P
DNAH5
CM065126
CAG‐TAG
Gln2802Term
8404C>T
Q2802*
DNAH5
CM091939
GTT‐TTT
Val2829Phe
8485G>T
V2829F
DNAH5
CM091940
CGT‐GGT
Arg2833Gly
8497C>G
R2833G
DNAH5
CM137159
CGT‐CAT
Arg2833His
8498G>A
R2833H
DNAH5
CM065136
TTT‐TCT
Phe2843Ser
8528T>C
F2843S
DNAH5
BM1267966
CAG‐GAG
Gln2949Glu
8845C>G
Q2949E
DNAH5
BM1212176
CGA‐TGA
Arg3000Term
8998C>T
R3000*
DNAH5
CM147992
TCA‐TGA
Ser3032Term
9095C>G
S3032*
DNAH5
CM147994
CGA‐TGA
Arg3096Term
9286C>T
R3096*
DNAH5
CM137160
AAG‐TAG
Lys3143Term
9427A>T
K3143*
DNAH5
CM065135
TGG‐TCG
Trp3409Ser
10226G>C
W3409S
DNAH5
CM091934
CAG‐CAC
Gln3455His
10365G>C
Q3455H
DNAH5
BM1236540
CAG‐TAG
Gln3462Term
10384C>T
Q3462*
DNAH5
CM147991
TGG‐TAG
Trp3503Term
10508G>A
W3503*
DNAH5
CM020274
GGG‐CGG
Gly3519Arg
10555G>C
G3519R
DNAH5
CM091938
CGT‐TGT
Arg3539Cys
10615C>T
R3539C
DNAH5
CM122413
CGT‐CAT
Arg3539His
10616G>A
R3539H
DNAH5
CM129161
ATT‐GTT
Ile3714Val
11140A>G
I3714V
DNAH5
CM148009
AGT‐GGT
Ser3770Gly
11308A>G
S3770G
DNAH5
CM147993
CGG‐TGG
Arg3813Trp
11437C>T
R3813W
DNAH5
CM065132
TCG‐TTG
Ser3843Leu
11528C>T
S3843L
DNAH5
BM1283322
AGC‐AGA
Ser3861Arg
11583C>A
S3861R
DNAH5
CM091935
GAG‐TAG
Glu4133Term
12397G>T
E4133*
DNAH5
CM065129
GGG‐GTG
Gly4205Val
12614G>T
G4205V
DNAH5
BM1246146
AAG‐AAT
Lys4235Asn
12705G>T
K4235N
DNAH5
CM065121
CGA‐TGA
Arg4476Term
13426C>T
R4476*
DNAH5
CM065128
CGA‐TGA
Arg4496Term
13486C>T
R4496*
DNAI1
CM086651
GAA‐AAA
Glu174Lys
520G>A
E174K
DNAI1
CM066045
CAG‐TAG
Gln292Term
874C>T
Q292*
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Failly (2009) J Med Genet 46:281
PubMed 19357118
Failly (2009) J Med Genet 46:281
PubMed 19357118
Zariwala (2013) Am J Hum Genet 93:336
PubMed 23891469
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Kim (2014) Ann Am Thorac Soc 11:351
PubMed 24498942
Kim (2014) Ann Am Thorac Soc 11:351
PubMed 24498942
Zariwala (2013) Am J Hum Genet 93:336
PubMed 23891469
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Failly (2009) J Med Genet 46:281
PubMed 19357118
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Kim (2014) Ann Am Thorac Soc 11:351
PubMed 24498942
Olbrich (2002) Nat Genet 30:143
PubMed 11788826
Failly (2009) J Med Genet 46:281
PubMed 19357118
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Nakhleh (2012) Circulation 125:2232
PubMed 22499950
Kim (2014) Ann Am Thorac Soc 11:351
PubMed 24498942
Kim (2014) Ann Am Thorac Soc 11:351
PubMed 24498942
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Failly (2009) J Med Genet 46:281
PubMed 19357118
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Djakow (2012) Pediatr Pulmonol 47:864
PubMed 22416021
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Hornef (2006) Am J Respir Crit Care Med 174:120
PubMed 16627867
Failly (2008) Respiration 76:198
PubMed 18434704
Zariwala (2006) Am J Respir Crit Care Med 174:858
PubMed 16858015
www.ngpd.it
Elenco mutazioni NGPD
DNAI1
CM108464
TGT‐TAT
Cys388Tyr
1163G>A
C388Y
DNAI1
CM066048
TAT‐TAG
Tyr404Term
1212T>G
Y404*
DNAI1
CM066047
GTG‐ATG
Val408Met
1222G>A
V408M
DNAI1
CM066049
TGG‐TAG
Trp436Term
1307G>A
W436*
DNAI1
BM1224985
ATG‐AGG
Met445Arg
1334T>G
M445R
DNAI1
CM108463
CTA‐CCA
Leu513Pro
1538T>C
L513P
DNAI1
CM129160
TCC‐GCC
Ser527Ala
1579T>G
S527A
DNAI1
CM066046
GCC‐ACC
Ala538Thr
1612G>A
A538T
DNAI1
CM066050
TGG‐TGA
Trp548Term
1644G>A
W548*
DNAI1
CM014352
TGG‐TCG
Trp568Ser
1703G>C
W568S
DNAI1
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
DUOX2
EPB41
EPB41
CM014353
CM1310002
CM1310003
CM1310004
CM147271
CM1310005
CM1313826
CM053838
CM021260
CM066051
CM1313825
CM116343
CM147267
CM1310006
CM053837
CM1313823
CM097376
CM068182
CM097377
CM119070
CM1310007
CM147268
CM116344
CM147269
CM147270
CM1310008
CM147272
CM1310009
CM1310010
CM1310011
CM1313824
CM920240
CM950359
TGG‐TGA
AAC‐TAC
GCT‐TCT
CCG‐CTG
AAC‐GAC
GGG‐GTG
CCC‐TCC
CGG‐TGG
CGA‐TGA
GAC‐AAC
CAA‐CTA
GCC‐ACC
TGG‐TGA
GTG‐ATG
CGA‐TGA
ATG‐AGG
TCG‐TTG
CAA‐TAA
TGT‐TAT
ATC‐ACC
GCA‐ACA
GCC‐TCC
TAC‐TGC
TGG‐GGG
GCC‐ACC
TAT‐TGT
CGG‐TGG
CGG‐TGG
TGT‐TAT
ATC‐TTC
GAG‐GGG
ATG‐AGG
ATG‐ACG
Trp568Term
Asn43Tyr
Ala72Ser
Pro96Leu
Asn100Asp
Gly206Val
Pro341Ser
Arg376Trp
Arg434Term
Asp506Asn
Gln570Leu
Ala728Thr
Trp734Term
Val779Met
Arg842Term
Met866Arg
Ser911Leu
Gln1026Term
Cys1052Tyr
Ile1080Thr
Ala1123Thr
Ala1131Ser
Tyr1150Cys
Trp1181Gly
Ala1206Thr
Tyr1229Cys
Arg1267Trp
Arg1334Trp
Cys1411Tyr
Ile1417Phe
Glu1546Gly
Met1Arg
Met1Thr
1704G>A
127A>T
214G>T
287C>T
298A>G
617G>T
1021C>T
1126C>T
1300C>T
1516G>A
1709A>T
2182G>A
2202G>A
2335G>A
2524C>T
2597T>G
2732C>T
3076C>T
3155G>A
3239T>C
3367G>A
3391G>T
3449A>G
3541T>G
3616G>A
3686A>G
3799C>T
4000C>T
4232G>A
4249A>T
4637A>G
2T>G
2T>C
W568*
N43Y
A72S
P96L
N100D
G206V
P341S
R376W
R434*
D506N
Q570L
A728T
W734*
V779M
R842*
M866R
S911L
Q1026*
C1052Y
I1080T
A1123T
A1131S
Y1150C
W1181G
A1206T
Y1229C
R1267W
R1334W
C1411Y
I1417F
E1546G
M1R
M1T
EVC
CM098918
ATG‐AAG
Met1Lys
2T>A
M1K
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Hypothyroidism
Elliptocytosis
Elliptocytosis
Ellis‐van Creveld syndrome
Zietkiewicz (2010) Respir Res 11:174
PubMed 21143860
Zariwala (2006) Am J Respir Crit Care Med 174:858
PubMed 16858015
Zariwala (2006) Am J Respir Crit Care Med 174:858
PubMed 16858015
Zariwala (2006) Am J Respir Crit Care Med 174:858
PubMed 16858015
Djakow (2012) Pediatr Pulmonol epub:epub
PubMed 22416021
Zietkiewicz (2010) Respir Res 11:174
PubMed 21143860
Nakhleh (2012) Circulation 125:2232
PubMed 22499950
Zariwala (2006) Am J Respir Crit Care Med 174:858
PubMed 16858015
Zariwala (2006) Am J Respir Crit Care Med 174:858
PubMed 16858015
Zariwala (2001) Am J Respir Cell Mol Biol 25:577
PubMed 11713099
Zariwala (2001) Am J Respir Cell Mol Biol 25:577
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Wang (2014) Clin Endocrinol (Oxf) 81:452
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Muzza (2013) J Clin Endocrinol Metab 99:E544
Vigone (2005) Hum Mutat 26:395
Moreno (2002) N Engl J Med 347:95
Pfarr (2006) Clin Endocrinol (Oxf) 65:810
Muzza (2013) J Clin Endocrinol Metab 99:E544
De Marco (2011) J Clin Endocrinol Metab 96:E1335
Wang (2014) Clin Endocrinol (Oxf) 81:452
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Vigone (2005) Hum Mutat 26:395
Muzza (2013) J Clin Endocrinol Metab 99:E544
Tonacchera (2009) J Clin Endocrinol Metab 94:4309
Di Candia (2006) Horm Res 65 S4:38
Tonacchera (2009) J Clin Endocrinol Metab 94:4309
Narumi (2011) J Clin Endocrinol Metab 96:E1838
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Wang (2014) Clin Endocrinol (Oxf) 81:452
De Marco (2011) J Clin Endocrinol Metab 96:E1335
Wang (2014) Clin Endocrinol (Oxf) 81:452
Wang (2014) Clin Endocrinol (Oxf) 81:452
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Wang (2014) Clin Endocrinol (Oxf) 81:452
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Kim (2013) Int J Pediatr Endocrinol 2013S1:O54
Muzza (2013) J Clin Endocrinol Metab 99:E544
Venezia (1992) J Clin Invest 90:1713
Garbarz (1995) Hum Mutat 5:339
PubMed 11713099
PubMed: No PubMed ID
PubMed: No PubMed ID
PubMed: No PubMed ID
PubMed 24735383
PubMed: No PubMed ID
PubMed 24423310
PubMed 16134168
PubMed 12110737
PubMed 17121535
PubMed 24423310
PubMed 21565790
PubMed 24735383
PubMed: No PubMed ID
PubMed 16134168
PubMed 24423310
PubMed 19789206
PubMed 16915615
PubMed 19789206
PubMed 21900383
PubMed: No PubMed ID
PubMed 24735383
PubMed 21565790
PubMed 24735383
PubMed 24735383
PubMed: No PubMed ID
PubMed 24735383
PubMed: No PubMed ID
PubMed: No PubMed ID
PubMed: No PubMed ID
PubMed 24423310
PubMed 1430200
PubMed 7627190
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
www.ngpd.it
Elenco mutazioni NGPD
EVC
CM098919
TAC‐TAA
Tyr121Term
363C>A
Y121*
EVC
CM131158
CCC‐TCC
Pro122Ser
364C>T
P122S
EVC
CM095470
AGT‐AAT
Ser206Asn
617G>A
EVC
CM092573
TTA‐TAA
Leu257Term
Not yet available
S206N
Not yet available
EVC
CM131157
CAG‐TAG
Gln277Term
829C>T
Q277*
EVC
CM131161
CTA‐GTA
Leu310Val
928C>G
L310V
EVC
CM000508
CGA‐TGA
Arg340Term
1018C>T
R340*
EVC
CM098921
GAA‐TAA
Glu354Term
1060G>T
E354*
EVC
CM098922
GAG‐TAG
Glu419Term
1255G>T
E419*
EVC
CM000509
CGA‐CAA
Arg443Gln
1328G>A
R443Q
EVC
CM131159
CAG‐TAG
Gln501Term
1501C>T
Q501*
EVC
CM098920
GAA‐TAA
Glu560Term
1678G>T
E560*
EVC
CM070082
CAG‐TAG
Gln605Term
1813C>T
Q605*
EVC
CM1111655
CGA‐TGA
Arg622Term
1864C>T
R622*
EVC
CM070083
CAG‐TAG
Gln734Term
2200C>T
Q734*
EVC
CM000510
CAG‐TAG
Gln879Term
2635C>T
Q879*
EVC
CM070081
CAG‐CAC
Gln896His
2688G>C
Q896H
EVC
CM085390
CTG‐CCG
Leu623Pro
1868T>C
L623P
EVC2
CM131154
CAA‐TAA
Gln159Term
475C>T
Q159*
EVC2
CM092414
GAC‐TAC
Asp207Tyr
619G>T
D207Y
EVC2
CM125234
TGG‐TGA
Trp215Term
645G>A
W215*
EVC2
CM070085
CAG‐TAG
Gln249Term
745C>T
Q249*
EVC2
CM030649
ATA‐AGA
Ile283Arg
848T>G
I283R
EVC2
CM092412
AAG‐TAG
Lys342Term
1024A>T
K342*
EVC2
CM030650
CGA‐TGA
Arg399Term
1195C>T
R399*
EVC2
CM070084
CAG‐TAG
Gln570Term
1708C>T
Q570*
EVC2
CM098964
CAG‐TAG
Gln610Term
1828C>T
Q610*
EVC2
CM030651
CAG‐TAG
Gln619Term
1855C>T
Q619*
EVC2
CM098965
CGA‐TGA
Arg677Term
2029C>T
R677*
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome without lip/nail/dental abnormalities
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
D'Asdia (2013) Eur J Med Genet 56:80
PubMed 23220543
Umm‐e‐Kalsoom (2009) Pediatr Int 52:240
PubMed 19744229
Sund (2009) Hum Mol Genet 18:1813
PubMed 19251731
D'Asdia (2013) Eur J Med Genet 56:80
PubMed 23220543
D'Asdia (2013) Eur J Med Genet 56:80
PubMed 23220543
Ruiz‐Perez (2000) Nat Genet 24:283
PubMed 10700184
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
Ruiz‐Perez (2000) Nat Genet 24:283
PubMed 10700184
D'Asdia (2013) Eur J Med Genet 56:80
PubMed 23220543
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
Tompson (2007) Hum Genet 120:663
PubMed 17024374
Rudnik‐Schöneborn (2011) Mol Syndromol 1:301
PubMed 22190900
Tompson (2007) Hum Genet 120:663
PubMed 17024374
Ruiz‐Perez (2000) Nat Genet 24:283
PubMed 10700184
Tompson (2007) Hum Genet 120:663
PubMed 17024374
Ulucan (2008) BMC Med Genet 9:92
PubMed 18947413
D'Asdia (2013) Eur J Med Genet 56:80
PubMed 23220543
Sund (2009) Hum Mol Genet 18:1813
PubMed 19251731
Peraita‐Ezcurra (2012) Gene 499:223
PubMed 22406498
Tompson (2007) Hum Genet 120:663
PubMed 17024374
Ruiz‐Perez (2003) Am J Hum Genet 72:728
PubMed 12571802
Sund (2009) Hum Mol Genet 18:1813
PubMed 19251731
Ruiz‐Perez (2003) Am J Hum Genet 72:728
PubMed 12571802
Tompson (2007) Hum Genet 120:663
PubMed 17024374
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
Ruiz‐Perez (2003) Am J Hum Genet 72:728
PubMed 12571802
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
www.ngpd.it
Elenco mutazioni NGPD
EVC2
CM070086
CAG‐TAG
Gln755Term
2263C>T
Q755*
EVC2
CM098966
GAG‐TAG
Glu789Term
2365G>T
E789*
EVC2
CM098967
CGA‐TGA
Arg826Term
2476C>T
R826*
EVC2
CM129770
TGG‐TGA
Trp828Term
2484G>A
W828*
EVC2
CM092415
CGA‐TGA
Arg874Term
2620C>T
R874*
EVC2
CM098968
TGG‐TGA
Trp884Term
2652G>A
W884*
EVC2
CM116608
CGA‐TGA
Arg885Term
2653C>T
R885*
EVC2
CM092413
GAG‐TAG
Glu900Term
2698G>T
E900*
EVC2
CM098969
CAG‐TAG
Gln904Term
2710C>T
Q904*
EVC2
CM024155
CGG‐TGG
Arg950Trp
2848C>T
R950W
EVC2
CM070087
GCG‐GTG
Ala1045Val
3134C>T
A1045V
EVC2
CM024156
CAG‐TAG
Gln1089Term
3265C>T
Q1089*
EVC2
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
CM098970
CM025245
CM010859
CM1314139
CM083653
CM0910291
CM123885
CM123836
CM080289
CM900085
CM990526
CM080264
CM055176
CM020407
CM0910937
CM062641
CM990525
CM020408
CM123837
CM960535
CM020409
CM0911148
CM053258
CM0910292
CM920249
CM970469
CM031978
CM080292
CM0911119
CM022206
CM010835
GAA‐TAA
ATG‐AGG
ATG‐ATA
ATG‐TTG
ATG‐ACG
ATG‐GTG
CTG‐CCG
TGC‐TGA
CTT‐CGT
CGA‐TGA
AGT‐AGG
AGA‐GGA
AGA‐ATA
AGA‐ACA
AGA‐GGA
TAC‐GAC
TAC‐TGC
TAC‐TGC
TAC‐TAG
CTG‐CGG
CTG‐CCG
GGT‐GAT
GTG‐GGG
GAA‐AAA
GAA‐GTA
TGG‐GGG
TGG‐TAG
GAC‐GAG
TAT‐AAT
TAT‐TGT
TAT‐CAT
Glu1095Term
Met1Arg
Met1Ile
Met1Leu
Met1Thr
Met1Val
Leu11Pro
Cys12Term
Leu13Arg
Arg15Term
Ser19Arg
Arg22Gly
Arg22Ile
Arg22Thr
Arg23Gly
Tyr24Asp
Tyr24Cys
Tyr25Cys
Tyr25Term
Leu26Arg
Leu26Pro
Gly27Asp
Val29Gly
Glu30Lys
Glu30Val
Trp33Gly
Trp33Term
Asp34Glu
Tyr35Asn
Tyr35Cys
Tyr35His
3283G>T
2T>G
3G>A
1A>T
2T>C
1A>G
32T>C
36C>A
38T>G
43C>T
57T>G
64A>G
65G>T
65G>C
67A>G
70T>G
71A>G
74A>G
75C>G
77T>G
77T>C
80G>A
86T>G
88G>A
89A>T
97T>G
98G>A
102C>G
103T>A
104A>G
103T>C
E1095*
M1R
M1I
M1L
M1T
M1V
L11P
C12*
L13R
R15*
S19R
R22G
R22I
R22T
R23G
Y24D
Y24C
Y25C
Y25*
L26R
L26P
G27D
V29G
E30K
E30V
W33G
W33*
D34E
Y35N
Y35C
Y35H
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Ellis‐van Creveld syndrome
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Tompson (2007) Hum Genet 120:663
PubMed 17024374
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
Zhang (2012) Gene 511:380
PubMed 23026208
Sund (2009) Hum Mol Genet 18:1813
PubMed 19251731
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
Shen (2011) Am J Med Genet A 155:2131
PubMed 21815252
Sund (2009) Hum Mol Genet 18:1813
PubMed 19251731
Valencia (2009) Hum Mutat 30:1667
PubMed 19810119
Galdzicka (2002) Mol Genet Metab 77:291
PubMed 12468274
Tompson (2007) Hum Genet 120:663
PubMed 17024374
Galdzicka (2002) Mol Genet Metab 77:291
PubMed 12468274
Valencia (2009) Hum Mutat 30:1667
Sukarova‐Stefanovska (2002) Haemophilia 8:715
Jayandharan (2009) Haemophilia 15:1228
Rydz (2013) Am J Hematol 88:1030
Green (2008) Br J Haematol 143:115
Abdul‐Ghafar (2009) Haemophilia 16:551
Miller (2012) Haemophilia 18:375
Miller (2012) Haemophilia 18:375
Santacroce (2008) J Hum Genet 53:275
Pattinson (1990) Blood 76:2242
Strmecki (1999) Hum Mutat 13:413
Santacroce (2008) J Hum Genet 53:275
Gallardo (2005) F8 LSDB entry Unpublished:.
Cutler (2002) Hum Mutat 19:274
Markoff (2009) Haemophilia 15:932
Guillet (2006) Hum Mutat 27:676
Waseem (1999) Thromb Haemost 81:900
Cutler (2002) Hum Mutat 19:274
Miller (2012) Haemophilia 18:375
Becker (1996) Am J Hum Genet 58:657
Cutler (2002) Hum Mutat 19:274
Ravanbod (2009) J Thromb Haemost 7S2:1117
Bogdanova (2005) Hum Mutat 26:249
Abdul‐Ghafar (2009) Haemophilia 16:551
Diamond (1992) Hum Mutat 1:248
Tavassoli (1997) Hum Genet 100:508
Bicocchi (2003) Br J Haematol 122:810
Santacroce (2008) J Hum Genet 53:275
Ravanbod (2009) J Thromb Haemost 7S2:1117
Valleix (2002) Blood 100:3034
Tagariello (2001) F8 LSDB entry Unpublished:
PubMed 19810119
PubMed 12199686
PubMed 19686262
PubMed 23913812
PubMed 18691168
PubMed 20028422
PubMed 22103590
PubMed 22103590
PubMed 18217193
PubMed 1979502
PubMed 10338101
PubMed 18217193
Source: LSDB
PubMed 11857744
PubMed 19473423
PubMed 16786531
PubMed 10404764
PubMed 11857744
PubMed 22103590
PubMed 8644728
PubMed 11857744
PubMed: No PubMed ID
PubMed 16086318
PubMed 20028422
PubMed 1301932
PubMed 9341862
PubMed 12930394
PubMed 18217193
PubMed: No PubMed ID
PubMed 12351418
Source: LSDB
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM010836
CM960536
CM082656
CM073043
CM990527
CM141478
CM010837
CM083643
CM020108
CM123838
CM1312762
CM053254
CM105565
CM1212705
CM053253
CM003810
CM103762
CM054684
CM098100
CM080250
CM031979
CM055186
CM1210083
CM950385
CM003811
CM053251
CM062665
CM081247
CM083644
CM123839
CM106046
CM121364
CM960537
CM0910967
CM055197
CM014182
CM129821
CM080305
CM0911146
CM0910293
CM920250
CM082641
CM080330
CM083678
CM055184
CM0910933
CM071725
CM080268
CM1314190
CM025251
CM100250
CM980664
CM984573
GGT‐TGT
AGA‐AAA
TCA‐TGA
GTG‐ATG
TAC‐TAA
TAC‐TAG
AAG‐AAC
AAG‐AAT
AAG‐GAG
AAG‐TAG
AAG‐ACG
ACT‐GCT
ACT‐AAT
ACT‐ATT
ACT‐CCT
CTG‐CCG
CTG‐GTG
TTT‐TCT
GAA‐GAC
GAA‐CAA
GAA‐AAA
TTC‐CTC
TTC‐TTA
GAT‐GAA
GAT‐TAT
CTT‐CCT
GCT‐GAT
CCA‐CGA
AGG‐GGG
TGG‐TGA
GGT‐GCT
GGT‐CGT
GGT‐GAT
GGT‐AGT
CTG‐CCG
GGT‐GCT
GGT‐CGT
GGT‐GAT
GGT‐TGT
GGT‐AGT
GGT‐GTT
CCT‐CTT
CCT‐TCT
ACC‐TCC
ATC‐AAC
ATC‐AGC
ATC‐ACC
ATC‐GTC
CAG‐TAG
GCT‐CCT
GAG‐GGG
GAG‐AAG
GAG‐GTG
Gly41Cys
Arg48Lys
Ser62Term
Val64Met
Tyr65Term
Tyr65Term
Lys67Asn
Lys67Asn
Lys67Glu
Lys67Term
Lys67Thr
Thr68Ala
Thr68Asn
Thr68Ile
Thr68Pro
Leu69Pro
Leu69Val
Phe70Ser
Glu72Asp
Glu72Gln
Glu72Lys
Phe73Leu
Phe73Leu
Asp75Glu
Asp75Tyr
Leu77Pro
Ala81Asp
Pro83Arg
Arg84Gly
Trp87Term
Gly89Ala
Gly89Arg
Gly89Asp
Gly89Ser
Leu90Pro
Gly92Ala
Gly92Arg
Gly92Asp
Gly92Cys
Gly92Ser
Gly92Val
Pro93Leu
Pro93Ser
Thr94Ser
Ile95Asn
Ile95Ser
Ile95Thr
Ile95Val
Gln96Term
Ala97Pro
Glu98Gly
Glu98Lys
Glu98Val
121G>T
143G>A
185C>G
190G>A
195C>A
195C>G
201G>C
201G>T
199A>G
199A>T
200A>C
202A>G
203C>A
203C>T
202A>C
206T>C
205C>G
209T>C
216A>C
214G>C
214G>A
217T>C
219C>A
225T>A
223G>T
230T>C
242C>A
248C>G
250A>G
261G>A
266G>C
265G>C
266G>A
265G>A
269T>C
275G>C
274G>C
275G>A
274G>T
274G>A
275G>T
278C>T
277C>T
280A>T
284T>A
284T>G
284T>C
283A>G
286C>T
289G>C
293A>G
292G>A
293A>T
G41C
R48K
S62*
V64M
Y65*
Y65*
K67N
K67N
K67E
K67*
K67T
T68A
T68N
T68I
T68P
L69P
L69V
F70S
E72D
E72Q
E72K
F73L
F73L
D75E
D75Y
L77P
A81D
P83R
R84G
W87*
G89A
G89R
G89D
G89S
L90P
G92A
G92R
G92D
G92C
G92S
G92V
P93L
P93S
T94S
I95N
I95S
I95T
I95V
Q96*
A97P
E98G
E98K
E98V
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Seehafer (2001) F8 LSDB entry Unpublished:
Becker (1996) Am J Hum Genet 58:657
Lin (2008) BMC Med Genet 9:53
Repesse (2007) J Thromb Haemost 5:1469
Waseem (1999) Thromb Haemost 81:900
Khanum (2014) Haemophilia 20:287
Timur (2001) Haemophilia 7:475
Green (2008) Br J Haematol 143:115
Liu (2002) Thromb Haemost 87:273
Miller (2012) Haemophilia 18:375
Abdi (2013) Clin Appl Thromb Hemost epub:epub
Bogdanova (2005) Hum Mutat 26:249
Nair (2010) Clin Chim Acta 411:2004
Halldén (2012) J Thromb Haemost 10:2503
Bogdanova (2005) Hum Mutat 26:249
Goodeve (2000) Thromb Haemost 83:844
Xue (2010) Eur J Haematol 85:264
Jayandharan (2005) Haemophilia 11:481
Castaman (2009) J Thromb Haemost 7:1824
Santacroce (2008) J Hum Genet 53:275
Bicocchi (2003) Br J Haematol 122:810
Berber (2006) J Thromb Haemost 4:1756
He (2012) Cell Biochem Biophys epub:epub
Bidichandani (1995) Hum Genet 95:531
Goodeve (2000) Thromb Haemost 83:844
Bogdanova (2005) Hum Mutat 26:249
Guillet (2006) Hum Mutat 27:676
Vencesla (2008) Blood 111:3468
Green (2008) Br J Haematol 143:115
Miller (2012) Haemophilia 18:375
Wang (2010) Haemophilia 16:632
Dai (2012) Haemophilia 18:235
Becker (1996) Am J Hum Genet 58:657
Markoff (2009) Haemophilia 15:932
Fidalgo (2005) F8 LSDB entry Unpublished:.
Bauduer (2001) Haemophilia 7:419
Debeljak (2012) Haemophilia 18:e420
Santacroce (2008) J Hum Genet 53:275
Ravanbod (2009) J Thromb Haemost 7S2:1117
Abdul‐Ghafar (2009) Haemophilia 16:551
Diamond (1992) Hum Mutat 1:248
Lin (2008) BMC Med Genet 9:53
Santacroce (2008) J Hum Genet 53:275
Green (2008) Br J Haematol 143:115
Lillicrap (2005) F8 LSDB entry Unpublished:.
Markoff (2009) Haemophilia 15:932
Castaman (2007) Haemophilia 13:311
Santacroce (2008) J Hum Genet 53:275
Rydz (2013) Am J Hematol 88:1030
Sukarova‐Stefanovska (2002) Haemophilia 8:715
Awidi (2010) Haemophilia 16:136
Liu (1998) Br J Haematol 103:1051
Riccardi (2010) Haemophilia 16:791
Source: LSDB
PubMed 8644728
PubMed 18565236
PubMed 17445092
PubMed 10404764
PubMed 24118398
PubMed 11554935
PubMed 18691168
PubMed 11858487
PubMed 22103590
PubMed 24270469
PubMed 16086318
PubMed 20800587
PubMed 23020595
PubMed 16086318
PubMed 10896236
PubMed 20528906
PubMed 16128892
PubMed 19719828
PubMed 18217193
PubMed 12930394
PubMed 16879218
PubMed 23111982
PubMed 7759074
PubMed 10896236
PubMed 16086318
PubMed 16786531
PubMed 18184865
PubMed 18691168
PubMed 22103590
PubMed 20331753
PubMed 21910785
PubMed 8644728
PubMed 19473423
Source: LSDB
PubMed 11442647
PubMed 22958177
PubMed 18217193
PubMed: No PubMed ID
PubMed 20028422
PubMed 1301932
PubMed 18565236
PubMed 18217193
PubMed 18691168
Source: LSDB
PubMed 19473423
PubMed 17498081
PubMed 18217193
PubMed 23913812
PubMed 12199686
PubMed 19817879
PubMed 9886318
PubMed 20331761
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM123886
CM960538
CM0911147
CM106047
CM980665
CM012934
CM960539
CM083674
CM080313
CM102433
CM920251
CM085394
CM1312756
CM910117
CM055200
CM087473
CM1313580
CM910118
CM050252
CM020410
CM062683
CM950386
CM080267
CM990528
CM080274
CM123887
CM080311
CM061761
CM082633
CM960540
CM015876
CM080287
CM073042
CM055215
CM070111
CM073047
CM055234
CM082663
CM990529
CM054673
CM080328
CM054669
CM1314140
CM0910938
CM1313581
CM111344
CM1310606
CM108702
CM980666
CM1210084
CM930210
CM073045
CM980667
GTT‐GCT
GTT‐GAT
GTT‐TTT
TAT‐TAG
GAT‐GGT
GAT‐CAT
GAT‐GTT
GTG‐GCG
GTG‐GAG
GTC‐GCC
GTC‐GAC
CTT‐TTT
AAG‐TAG
AAG‐ACG
AAC‐CAC
AAC‐ACC
AAC‐TAC
ATG‐GTG
GCT‐ACT
GCT‐GTT
TCC‐TTC
CAT‐CGT
CAT‐CAA
CAT‐TAT
CCT‐CTT
GTC‐GCC
GTC‐GGC
GTC‐TTC
AGT‐AGG
CTT‐CGT
CTT‐TTT
CTT‐CCT
CAT‐CGT
GTT‐GCT
GTT‐GAT
GGT‐GCT
GGT‐CGT
GGT‐TGT
GGT‐AGT
GGT‐GTT
TCC‐TGC
TCC‐CCC
AAA‐AGA
AAA‐ACA
TCT‐CCT
GAG‐GAT
GAG‐GGG
GAG‐AAG
GAG‐GTG
GGA‐AGA
GGA‐CGA
GAA‐GCA
GAA‐GAC
Val99Ala
Val99Asp
Val99Phe
Tyr100Term
Asp101Gly
Asp101His
Asp101Val
Val103Ala
Val103Glu
Val104Ala
Val104Asp
Leu107Phe
Lys108Term
Lys108Thr
Asn109His
Asn109Thr
Asn109Tyr
Met110Val
Ala111Thr
Ala111Val
Ser112Phe
His113Arg
His113Gln
His113Tyr
Pro114Leu
Val115Ala
Val115Gly
Val115Phe
Ser116Arg
Leu117Arg
Leu117Phe
Leu117Pro
His118Arg
Val120Ala
Val120Asp
Gly121Ala
Gly121Arg
Gly121Cys
Gly121Ser
Gly121Val
Ser123Cys
Ser123Pro
Lys126Arg
Lys126Thr
Ser128Pro
Glu129Asp
Glu129Gly
Glu129Lys
Glu129Val
Gly130Arg
Gly130Arg
Glu132Ala
Glu132Asp
296T>C
296T>A
295G>T
300T>G
302A>G
301G>C
302A>T
308T>C
308T>A
311T>C
311T>A
319C>T
322A>T
323A>C
325A>C
326A>C
325A>T
328A>G
331G>A
332C>T
335C>T
338A>G
339T>A
337C>T
341C>T
344T>C
344T>G
343G>T
348T>G
350T>G
349C>T
350T>C
353A>G
359T>C
359T>A
362G>C
361G>C
361G>T
361G>A
362G>T
368C>G
367T>C
377A>G
377A>C
382T>C
387G>T
386A>G
385G>A
386A>T
388G>A
388G>C
395A>C
396A>C
V99A
V99D
V99F
Y100*
D101G
D101H
D101V
V103A
V103E
V104A
V104D
L107F
K108*
K108T
N109H
N109T
N109Y
M110V
A111T
A111V
S112F
H113R
H113Q
H113Y
P114L
V115A
V115G
V115F
S116R
L117R
L117F
L117P
H118R
V120A
V120D
G121A
G121R
G121C
G121S
G121V
S123C
S123P
K126R
K126T
S128P
E129D
E129G
E129K
E129V
G130R
G130R
E132A
E132D
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Miller (2012) Haemophilia 18:375
Becker (1996) Am J Hum Genet 58:657
Ravanbod (2009) J Thromb Haemost 7S2:1117
Wang (2010) Haemophilia 16:632
Liu (1998) Br J Haematol 103:1051
Leuer (2001) Am J Hum Genet 69:75
Becker (1996) Am J Hum Genet 58:657
Green (2008) Br J Haematol 143:115
Santacroce (2008) J Hum Genet 53:275
Chen (2010) Haemophilia 16:538
Diamond (1992) Hum Mutat 1:248
Green (2008) Br J Haematol 143:115
Abdi (2013) Clin Appl Thromb Hemost epub:epub
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Lillicrap (2005) F8 LSDB entry Unpublished:.
Stefanovska (2008) Balkan J Med Genet 11(1):55
Gorziza (2013) Blood Coagul Fibrinolysis 24:164
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Bicocchi (2005) Am J Hematol 78:117
Cutler (2002) Hum Mutat 19:274
Guillet (2006) Hum Mutat 27:676
Arruda (1995) Blood 86:3015
Santacroce (2008) J Hum Genet 53:275
Waseem (1999) Thromb Haemost 81:900
Santacroce (2008) J Hum Genet 53:275
Miller (2012) Haemophilia 18:375
Santacroce (2008) J Hum Genet 53:275
Vinciguerra (2006) Thromb Haemost 95:593
Sanna (2008) Haemophilia 14:796
Becker (1996) Am J Hum Genet 58:657
Timur (2001) Haemophilia 7:475
Santacroce (2008) J Hum Genet 53:275
Repesse (2007) J Thromb Haemost 5:1469
Lillicrap (2005) F8 LSDB entry Unpublished:.
Bogdanova (2007) Hum Mutat 28:54
Salviato (2007) Haemophilia 13:361
Lillicrap (2005) F8 LSDB entry Unpublished:.
Ma (2008) Haemophilia 14:787
Waseem (1999) Thromb Haemost 81:900
Jayandharan (2005) Haemophilia 11:481
Santacroce (2008) J Hum Genet 53:275
Jayandharan (2005) Haemophilia 11:481
Rydz (2013) Am J Hematol 88:1030
Markoff (2009) Haemophilia 15:932
Gorziza (2013) Blood Coagul Fibrinolysis 24:164
Gouw (2011) Haemophilia 17:275
Schwaab (2013) Thromb Haemost 109:464
Reitter (2010) Thromb Haemost 104:78
Maugard (1998) Hum Mutat 11:18
He (2012) Cell Biochem Biophys epub:epub
Lin (1993) Genomics 18:496
Repesse (2007) J Thromb Haemost 5:1469
Freson (1998) Hum Mutat 11:470
PubMed 22103590
PubMed 8644728
PubMed: No PubMed ID
PubMed 20331753
PubMed 9886318
PubMed 11410838
PubMed 8644728
PubMed 18691168
PubMed 18217193
PubMed 20236351
PubMed 1301932
PubMed 18691168
PubMed 24270469
PubMed 1908096
Source: LSDB
PubMed: No PubMed ID
PubMed 23249616
PubMed 1908096
PubMed 15682412
PubMed 11857744
PubMed 16786531
PubMed 7579394
PubMed 18217193
PubMed 10404764
PubMed 18217193
PubMed 22103590
PubMed 18217193
PubMed 16601827
PubMed 18459951
PubMed 8644728
PubMed 11554935
PubMed 18217193
PubMed 17445092
Source: LSDB
PubMed 16972227
PubMed 17610549
Source: LSDB
PubMed 18371163
PubMed 10404764
PubMed 16128892
PubMed 18217193
PubMed 16128892
PubMed 23913812
PubMed 19473423
PubMed 23249616
PubMed 21070499
PubMed 23306409
PubMed 20431853
PubMed 9450898
PubMed 23111982
PubMed 8307558
PubMed 17445092
PubMed 9603440
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM950387
CM082658
CM053255
CM960541
CM012935
CM061739
CM980668
CM015872
CM950388
CM081609
CM020411
CM055222
CM014183
CM980669
CM055205
CM055177
CM055178
CM980670
CM062687
CM062678
CM080316
CM092066
CM021585
CM053875
CM080275
CM062679
CM1314141
CM055216
CM123986
CM031980
CM145556
CM125451
CM123987
CM1212706
CM960542
CM980671
CM054668
CM980672
CM980673
CM082660
CM920252
CM010838
CM930211
CM083654
CM108703
CM083660
CM078069
CM057452
CM123840
CM990530
CM1314142
CM080290
CM083661
TAT‐TGT
GAT‐AAT
GAT‐GAA
GAT‐GGT
GAT‐TAT
CAG‐CCG
CAG‐TAG
ACC‐GCC
ACC‐ATC
ACC‐CCC
AGT‐AGG
CAA‐TAA
GAG‐AAG
GAG‐TAG
GAT‐GCT
GAT‐AAT
GAT‐TAT
GAT‐CAT
GAT‐TAT
AAA‐GAA
AAA‐TAA
AAA‐ACA
GTC‐GAC
CCT‐CGT
CCT‐CTT
ACA‐GCA
ACA‐AAA
ACA‐CCA
TAT‐AAT
TAT‐CAT
TAT‐TCT
TGG‐AGG
TGG‐TGC
TGG‐TGA
CAG‐TAG
GTC‐GCC
GAG‐AAG
AAT‐AAA
GGT‐GAT
GGT‐AGT
GGT‐GTT
CCA‐CTA
CCA‐TCA
ATG‐ATA
ATG‐GTG
CCA‐TCA
TGC‐CGC
TGC‐TTC
TGC‐TGA
TGC‐TGG
TGC‐TAC
CTT‐CGT
CTT‐TTT
Tyr133Cys
Asp135Asn
Asp135Glu
Asp135Gly
Asp135Tyr
Gln136Pro
Gln136Term
Thr137Ala
Thr137Ile
Thr137Pro
Ser138Arg
Gln139Term
Glu141Lys
Glu141Term
Asp144Ala
Asp144Asn
Asp144Tyr
Asp145His
Asp145Tyr
Lys146Glu
Lys146Term
Lys146Thr
Val147Asp
Pro149Arg
Pro149Leu
Thr154Ala
Thr154Lys
Thr154Pro
Tyr155Asn
Tyr155His
Tyr155Ser
Trp157Arg
Trp157Cys
Trp157Term
Gln158Term
Val159Ala
Glu162Lys
Asn163Lys
Gly164Asp
Gly164Ser
Gly164Val
Pro165Leu
Pro165Ser
Met166Ile
Met166Val
Pro170Ser
Cys172Arg
Cys172Phe
Cys172Term
Cys172Trp
Cys172Tyr
Leu173Arg
Leu173Phe
398A>G
403G>A
405T>A
404A>G
403G>T
407A>C
406C>T
409A>G
410C>T
409A>C
414T>G
415C>T
421G>A
421G>T
431A>C
430G>A
430G>T
433G>C
433G>T
436A>G
436A>T
437A>C
440T>A
446C>G
446C>T
460A>G
461C>A
460A>C
463T>A
463T>C
464A>C
469T>A
471G>C
471G>A
472C>T
476T>C
484G>A
489T>A
491G>A
490G>A
491G>T
494C>T
493C>T
498G>A
496A>G
508C>T
514T>C
515G>T
516C>A
516C>G
515G>A
518T>G
517C>T
Y133C
D135N
D135E
D135G
D135Y
Q136P
Q136*
T137A
T137I
T137P
S138R
Q139*
E141K
E141*
D144A
D144N
D144Y
D145H
D145Y
K146E
K146*
K146T
V147D
P149R
P149L
T154A
T154K
T154P
Y155N
Y155H
Y155S
W157R
W157C
W157*
Q158*
V159A
E162K
N163K
G164D
G164S
G164V
P165L
P165S
M166I
M166V
P170S
C172R
C172F
C172*
C172W
C172Y
L173R
L173F
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Schwaab (1995) Br J Haematol 91:458
Lin (2008) BMC Med Genet 9:53
Bogdanova (2005) Hum Mutat 26:249
Becker (1996) Am J Hum Genet 58:657
Leuer (2001) Am J Hum Genet 69:75
Vinciguerra (2006) Thromb Haemost 95:593
Liu (1998) Br J Haematol 103:1051
Timur (2001) Haemophilia 7:475
Schwaab (1995) Br J Haematol 91:458
Abu‐Amero (2008) Haemophilia 14:484
Cutler (2002) Hum Mutat 19:274
Casey (2005) F8 LSDB entry Unpublished:.
Theophilus (2001) Haemophilia 7:381
Liu (1998) Br J Haematol 103:1051
Ahmed (2005) Haematologica 90:283
Riccardi (2010) Haemophilia 16:791
Lillicrap (2005) F8 LSDB entry Unpublished:.
Liu (1998) Br J Haematol 103:1051
Guillet (2006) Hum Mutat 27:676
Guillet (2006) Hum Mutat 27:676
Santacroce (2008) J Hum Genet 53:275
Viel (2009) N Engl J Med 360:1618
Klopp (2002) Thromb Haemost 88:357
Boekhorst (2005) Br J Haematol 131:109
Santacroce (2008) J Hum Genet 53:275
Guillet (2006) Hum Mutat 27:676
Rydz (2013) Am J Hematol 88:1030
Nesbitt (2005) F8 LSDB entry Unpublished:.
Lannoy (2012) Haemophilia 18:e331
Bicocchi (2003) Br J Haematol 122:810
Nair (2014) PLoS One 9:e97337
Faridi (2012) Haemophilia 18S3:137
Lannoy (2012) Haemophilia 18:e331
Halldén (2012) J Thromb Haemost 10:2503
Becker (1996) Am J Hum Genet 58:657
Liu (1998) Br J Haematol 103:1051
Jayandharan (2005) Haemophilia 11:481
Liu (1998) Br J Haematol 103:1051
Liu (1998) Br J Haematol 103:1051
Ma (2008) Haemophilia 14:787
Diamond (1992) Hum Mutat 1:248
Gallardo (2001) F8 LSDB entry Unpublished:
Lin (1993) Genomics 18:496
Green (2008) Br J Haematol 143:115
Reitter (2010) Thromb Haemost 104:78
Green (2008) Br J Haematol 143:115
Onsori (2007) Pak J Biol Sci 10:4299
Fernandez‐Lopez (2005) Haematologica 90:707
Miller (2012) Haemophilia 18:375
Waseem (1999) Thromb Haemost 81:900
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Green (2008) Br J Haematol 143:115
PubMed 8547094
PubMed 18565236
PubMed 16086318
PubMed 8644728
PubMed 11410838
PubMed 16601827
PubMed 9886318
PubMed 11554935
PubMed 8547094
PubMed 18371166
PubMed 11857744
Source: LSDB
PubMed 11442643
PubMed 9886318
PubMed 15710596
PubMed 20331761
Source: LSDB
PubMed 9886318
PubMed 16786531
PubMed 16786531
PubMed 18217193
PubMed 19369668
PubMed 12195713
PubMed 16173970
PubMed 18217193
PubMed 16786531
PubMed 23913812
Source: LSDB
PubMed 21883705
PubMed 12930394
PubMed 24845853
PubMed: No PubMed ID
PubMed 21883705
PubMed 23020595
PubMed 8644728
PubMed 9886318
PubMed 16128892
PubMed 9886318
PubMed 9886318
PubMed 18371163
PubMed 1301932
Source: LSDB
PubMed 8307558
PubMed 18691168
PubMed 20431853
PubMed 18691168
PubMed 19086591
PubMed 15921397
PubMed 22103590
PubMed 10404764
PubMed 23913812
PubMed 18217193
PubMed 18691168
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM0911127
CM082653
CM111345
CM053879
CM138654
CM960543
CM990531
CM061750
CM082657
CM141464
CM062685
CM980674
CM055224
CM031981
CM920253
CM070102
CM088393
CM0910968
CM067374
CM910119
CM080251
CM053877
CM020412
CM111346
CM010839
CM122062
CM053264
CM1314143
CM0911121
CM890044
CM119433
CM083671
CM123888
CM0910934
CM070095
CM010840
CM080299
CM062638
CM080276
CM081251
CM070107
CM108704
CM127362
CM022782
CM1314144
CM020109
CM108705
CM102434
CM082652
CM1212707
CM990532
CM950389
CM062658
CTT‐GTT
ACC‐GCC
ACC‐AAC
TAC‐TGC
TAC‐TCC
TAC‐TAA
TCA‐CCA
TAT‐TGT
CTT‐GTT
TCT‐TGT
TCT‐TTT
TCT‐CCT
CAT‐TAT
GTG‐GAG
GTG‐ATG
GAC‐GCC
GAC‐GTC
AAA‐AAT
AAA‐GAA
AAA‐ACA
GAC‐AAC
GAC‐GAA
GAC‐GGC
GAC‐CAC
GAC‐TAC
TTG‐TCG
TTG‐TAG
TTG‐TGG
AAT‐TAT
TCA‐TTA
TCA‐TAA
GGC‐GAC
GGC‐TGC
CTC‐TTC
ATT‐ACT
GGA‐AGA
GGA‐GAA
GCC‐ACC
CTA‐CGA
CTA‐CCA
GTA‐GGA
GTA‐CTA
TGT‐CGT
TGT‐GGT
TGT‐TAT
AGA‐TGA
GAA‐GGA
GGG‐AGG
GGG‐GAG
GGG‐TGG
AGT‐AGG
AGT‐AAT
CTG‐CGG
Leu173Val
Thr174Ala
Thr174Asn
Tyr175Cys
Tyr175Ser
Tyr175Term
Ser176Pro
Tyr177Cys
Leu178Val
Ser179Cys
Ser179Phe
Ser179Pro
His180Tyr
Val181Glu
Val181Met
Asp182Ala
Asp182Val
Lys185Asn
Lys185Glu
Lys185Thr
Asp186Asn
Asp186Glu
Asp186Gly
Asp186His
Asp186Tyr
Leu187Ser
Leu187Term
Leu187Trp
Asn188Tyr
Ser189Leu
Ser189Term
Gly190Asp
Gly190Cys
Leu191Phe
Ile192Thr
Gly193Arg
Gly193Glu
Ala194Thr
Leu195Arg
Leu195Pro
Val197Gly
Val197Leu
Cys198Arg
Cys198Gly
Cys198Tyr
Arg199Term
Glu200Gly
Gly201Arg
Gly201Glu
Gly201Trp
Ser202Arg
Ser202Asn
Leu203Arg
517C>G
520A>G
521C>A
524A>G
524A>C
525C>A
526T>C
530A>G
532C>G
536C>G
536C>T
535T>C
538C>T
542T>A
541G>A
545A>C
545A>T
555A>T
553A>G
554A>C
556G>A
558C>A
557A>G
556G>C
556G>T
560T>C
560T>A
560T>G
562A>T
566C>T
566C>A
569G>A
568G>T
571C>T
575T>C
577G>A
578G>A
580G>A
584T>G
584T>C
590T>G
589G>C
592T>C
592T>G
593G>A
595A>T
599A>G
601G>A
602G>A
601G>T
606T>G
605G>A
608T>G
L173V
T174A
T174N
Y175C
Y175S
Y175*
S176P
Y177C
L178V
S179C
S179F
S179P
H180Y
V181E
V181M
D182A
D182V
K185N
K185E
K185T
D186N
D186E
D186G
D186H
D186Y
L187S
L187*
L187W
N188Y
S189L
S189*
G190D
G190C
L191F
I192T
G193R
G193E
A194T
L195R
L195P
V197G
V197L
C198R
C198G
C198Y
R199*
E200G
G201R
G201E
G201W
S202R
S202N
L203R
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Ravanbod (2009) J Thromb Haemost 7S2:1117
Ma (2008) Haemophilia 14:787
Gouw (2011) Haemophilia 17:275
Boekhorst (2005) Br J Haematol 131:109
Nance (2013) Haemophilia 19:720
Becker (1996) Am J Hum Genet 58:657
Waseem (1999) Thromb Haemost 81:900
Vinciguerra (2006) Thromb Haemost 95:593
Lin (2008) BMC Med Genet 9:53
Khanum (2014) Haemophilia 20:287
Guillet (2006) Hum Mutat 27:676
Liu (1998) Br J Haematol 103:1051
Fernandez‐Lopez (2005) Haematologica 90:707
Bicocchi (2003) Br J Haematol 122:810
Diamond (1992) Hum Mutat 1:248
David (2006) Haematologica 91:840
Casaña (2008) Haematologica 93:1091
Markoff (2009) Haemophilia 15:932
David (2006) Haematologica 91:840
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Santacroce (2008) J Hum Genet 53:275
Boekhorst (2005) Br J Haematol 131:109
Cutler (2002) Hum Mutat 19:274
Gouw (2011) Haemophilia 17:275
David (2006) Haematologica 91:840
Seary (2012) Haemophilia 18:50
Bogdanova (2005) Hum Mutat 26:249
Rydz (2013) Am J Hematol 88:1030
Ravanbod (2009) J Thromb Haemost 7S2:1117
Chan (1989) Blood 74:2688
Silva Pinto (2012) Haemophilia 18:129
Green (2008) Br J Haematol 143:115
Miller (2012) Haemophilia 18:375
Markoff (2009) Haemophilia 15:932
Bogdanova (2007) Hum Mutat 28:54
Vidal (2001) Thromb Haemost 85:580
Santacroce (2008) J Hum Genet 53:275
Guillet (2006) Hum Mutat 27:676
Santacroce (2008) J Hum Genet 53:275
Vencesla (2008) Blood 111:3468
Bogdanova (2007) Hum Mutat 28:54
Reitter (2010) Thromb Haemost 104:78
Elmahmoudi (2012) Diagn Pathol 7:93
Mazurier (2002) Br J Haematol 119:390
Rydz (2013) Am J Hematol 88:1030
Liu (2002) Thromb Haemost 87:273
Reitter (2010) Thromb Haemost 104:78
Chen (2010) Haemophilia 16:538
Djambas Khayat (2008) Haemophilia 14:709
Halldén (2012) J Thromb Haemost 10:2503
Moller‐Morlang (1999) Hum Mutat 13:504
Arruda (1995) Blood 86:3015
Guillet (2006) Hum Mutat 27:676
PubMed: No PubMed ID
PubMed 18371163
PubMed 21070499
PubMed 16173970
PubMed 23711294
PubMed 8644728
PubMed 10404764
PubMed 16601827
PubMed 18565236
PubMed 24118398
PubMed 16786531
PubMed 9886318
PubMed 15921397
PubMed 12930394
PubMed 1301932
PubMed 16769589
PubMed 18403393
PubMed 19473423
PubMed 16769589
PubMed 1924291
PubMed 18217193
PubMed 16173970
PubMed 11857744
PubMed 21070499
PubMed 16769589
PubMed 21592259
PubMed 16086318
PubMed 23913812
PubMed: No PubMed ID
PubMed 2510835
PubMed 21645180
PubMed 18691168
PubMed 22103590
PubMed 19473423
PubMed 16972227
PubMed 11341489
PubMed 18217193
PubMed 16786531
PubMed 18217193
PubMed 18184865
PubMed 16972227
PubMed 20431853
PubMed 22883072
PubMed 12406074
PubMed 23913812
PubMed 11858487
PubMed 20431853
PubMed 20236351
PubMed 18479430
PubMed 23020595
PubMed 10408784
PubMed 7579394
PubMed 16786531
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM010841
CM123889
CM122066
CM990533
CM0910939
CM103763
CM083662
CM950390
CM080288
CM960544
CM111347
CM990534
CM020110
CM062693
CM0910940
CM950391
CM012936
CM980675
CM062686
CM0910941
CM1314145
CM053242
CM055182
CM082665
CM055227
CM010842
CM1314146
CM080321
CM080298
CM123890
CM123978
CM055231
CM062643
CM123979
CM032896
CM076176
CM108706
CM124274
CM080312
CM980676
CM095521
CM031982
CM080248
CM111348
CM083656
CM061749
CM1314147
CM080339
CM082661
CM011323
CM062694
CM123981
CM123891
CAG‐TAG
TTT‐TGT
TTT‐TCT
TTT‐GTT
ATA‐ATG
CTA‐CAA
CTT‐CGT
CTT‐CAT
CTT‐CCT
GCT‐GAT
GCT‐CCT
GCT‐ACT
GTA‐GGA
GTA‐CTA
GAT‐GGT
GAT‐GTT
GAA‐GAT
GAA‐AAA
GAA‐TAA
GGG‐TGG
AGT‐CGT
AGT‐TGT
AGT‐ATT
TGG‐GGG
TGG‐TAG
CAC‐CGC
TCA‐CCA
TCA‐TGA
CAG‐TAG
TCT‐TGT
CGG‐TGG
TGG‐TGA
ATG‐AGG
CAC‐GAC
ACA‐ATA
ACA‐AAA
GTC‐GCC
GTC‐GAC
GTC‐GGC
GTC‐TTC
AAT‐GAT
AAT‐ATT
AAT‐AGT
AAT‐ACT
AAT‐TAT
GGT‐GCT
GGT‐GAT
GGT‐TGT
GGT‐AGT
GGT‐GTT
TAT‐AAT
AGG‐GGG
AGG‐AGT
Gln209Term
Phe214Cys
Phe214Ser
Phe214Val
Ile215Met
Leu216Gln
Leu217Arg
Leu217His
Leu217Pro
Ala219Asp
Ala219Pro
Ala219Thr
Val220Gly
Val220Leu
Asp222Gly
Asp222Val
Glu223Asp
Glu223Lys
Glu223Term
Gly224Trp
Ser226Arg
Ser226Cys
Ser226Ile
Trp227Gly
Trp227Term
His228Arg
Ser229Pro
Ser229Term
Gln237Term
Ser243Cys
Arg245Trp
Trp247Term
Met250Arg
His251Asp
Thr252Ile
Thr252Lys
Val253Ala
Val253Asp
Val253Gly
Val253Phe
Asn254Asp
Asn254Ile
Asn254Ser
Asn254Thr
Asn254Tyr
Gly255Ala
Gly255Asp
Gly255Cys
Gly255Ser
Gly255Val
Tyr256Asn
Arg259Gly
Arg259Ser
625C>T
641T>G
641T>C
640T>G
645A>G
647T>A
650T>G
650T>A
650T>C
656C>A
655G>C
655G>A
659T>G
658G>C
665A>G
665A>T
669A>T
667G>A
667G>T
670G>T
676A>C
676A>T
677G>T
679T>G
680G>A
683A>G
685T>C
686C>G
709C>T
728C>G
733C>T
741G>A
749T>G
751C>G
755C>T
755C>A
758T>C
758T>A
758T>G
757G>T
760A>G
761A>T
761A>G
761A>C
760A>T
764G>C
764G>A
763G>T
763G>A
764G>T
766T>A
775A>G
777G>T
Q209*
F214C
F214S
F214V
I215M
L216Q
L217R
L217H
L217P
A219D
A219P
A219T
V220G
V220L
D222G
D222V
E223D
E223K
E223*
G224W
S226R
S226C
S226I
W227G
W227*
H228R
S229P
S229*
Q237*
S243C
R245W
W247*
M250R
H251D
T252I
T252K
V253A
V253D
V253G
V253F
N254D
N254I
N254S
N254T
N254Y
G255A
G255D
G255C
G255S
G255V
Y256N
R259G
R259S
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Sanchez‐Vega (2001) F8 LSDB entry Unpublished:
Miller (2012) Haemophilia 18:375
Seary (2012) Haemophilia 18:50
Waseem (1999) Thromb Haemost 81:900
Markoff (2009) Haemophilia 15:932
Xue (2010) Eur J Haematol 85:264
Green (2008) Br J Haematol 143:115
Pieneman (1995) Br J Haematol 90:442
Santacroce (2008) J Hum Genet 53:275
Becker (1996) Am J Hum Genet 58:657
Gouw (2011) Haemophilia 17:275
Waseem (1999) Thromb Haemost 81:900
Liu (2002) Thromb Haemost 87:273
Guillet (2006) Hum Mutat 27:676
Markoff (2009) Haemophilia 15:932
Schwaab (1995) Br J Haematol 91:458
Bogdanova (2001) Hum Mutat 18:546
Williams (1998) Thromb Haemost 79:723
Guillet (2006) Hum Mutat 27:676
Markoff (2009) Haemophilia 15:932
Rydz (2013) Am J Hematol 88:1030
Bogdanova (2005) Hum Mutat 26:249
Repesse (2007) J Thromb Haemost 5:1469
Djambas Khayat (2008) Haemophilia 14:709
Chuansumrit (2005) F8 LSDB entry Unpublished:.
Ljung (2001) F8 LSDB entry Unpublished:
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Santacroce (2008) J Hum Genet 53:275
Miller (2012) Haemophilia 18:375
Lannoy (2012) Haemophilia 18:e331
Fernandez‐Lopez (2005) Haematologica 90:707
Guillet (2006) Hum Mutat 27:676
Lannoy (2012) Haemophilia 18:e331
Yenchitsomanus (2003) Haemophilia 9:179
Rossetti (2007) Haematologica 92:842
Reitter (2010) Thromb Haemost 104:78
Ravanbod (2012) Haemophilia 18:e340
Santacroce (2008) J Hum Genet 53:275
Freson (1998) Hum Mutat 11:470
Owaidah (2009) Blood Coagul Fibrinolysis 20:415
Bicocchi (2003) Br J Haematol 122:810
Santacroce (2008) J Hum Genet 53:275
Gouw (2011) Haemophilia 17:275
Green (2008) Br J Haematol 143:115
Vinciguerra (2006) Thromb Haemost 95:593
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Djambas Khayat (2008) Haemophilia 14:709
Ivaskevicius (2001) Br J Haematol 112:1062
Guillet (2006) Hum Mutat 27:676
Lannoy (2012) Haemophilia 18:e331
Miller (2012) Haemophilia 18:375
Source: LSDB
PubMed 22103590
PubMed 21592259
PubMed 10404764
PubMed 19473423
PubMed 20528906
PubMed 18691168
PubMed 7794769
PubMed 18217193
PubMed 8644728
PubMed 21070499
PubMed 10404764
PubMed 11858487
PubMed 16786531
PubMed 19473423
PubMed 8547094
PubMed 11748850
PubMed 9569180
PubMed 16786531
PubMed 19473423
PubMed 23913812
PubMed 16086318
PubMed 17445092
PubMed 18479430
Source: LSDB
Source: LSDB
PubMed 23913812
PubMed 18217193
PubMed 18217193
PubMed 22103590
PubMed 21883705
PubMed 15921397
PubMed 16786531
PubMed 21883705
PubMed 12614369
PubMed 17550859
PubMed 20431853
PubMed 22117735
PubMed 18217193
PubMed 9603440
PubMed 19448530
PubMed 12930394
PubMed 18217193
PubMed 21070499
PubMed 18691168
PubMed 16601827
PubMed 23913812
PubMed 18217193
PubMed 18479430
PubMed 11298607
PubMed 16786531
PubMed 21883705
PubMed 22103590
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM080253
CM061740
CM061755
CM1314148
HM070052
CM020111
CM070106
CM960545
CM0911145
CM123892
CM950392
CM010843
CM015877
CM1212708
CM055232
CM970470
CM940398
CM053873
CM138649
CM950393
CM025256
CM123988
CM082647
CM960546
CM108707
CM083673
CM081254
CM055174
CM098101
CM070096
CM118158
CM020413
CM012937
CM057448
CM910120
CM138661
CM108708
CM1212709
CM962541
CM0911116
CM880024
CM920254
CM011324
CM062675
CM113251
CM057440
CM950394
CM062647
CM010844
CM1314149
CM073053
CM980677
CM062677
AGG‐ACG
AGG‐TGG
TCT‐TGT
CTG‐CAG
CTG‐CCG
CCA‐CTA
GGT‐GAT
GGT‐AGT
CTG‐CGG
CTG‐CCG
GGA‐GAA
GGA‐TGA
TGC‐TAC
AGG‐TGG
TGG‐TGC
TGG‐TGT
TGG‐TGA
CAT‐CGT
CAT‐CAA
CAT‐CTT
GTG‐ATG
ATT‐AGT
ATT‐GTT
GGA‐AGA
ATG‐AAG
GGC‐CGC
GGC‐GAC
ACC‐AAC
ACC‐ATC
ACC‐CCC
CCT‐CTT
GAA‐AAA
GAA‐TAA
GTG‐GCG
GTG‐GGG
GTG‐ATG
CAC‐CGC
CAC‐CAG
CAC‐CCC
ATA‐ACA
GAA‐GGA
GAA‐AAA
GAA‐TAA
GGT‐GTT
CAC‐CGC
CAC‐CTC
ACA‐ATA
TTT‐ATT
TTT‐CTT
TTT‐TAT
CTT‐TTT
GTG‐GCG
GTG‐GGG
Arg259Thr
Arg259Trp
Ser260Cys
Leu261Gln
Leu261Pro
Pro262Leu
Gly263Asp
Gly263Ser
Leu264Arg
Leu264Pro
Gly266Glu
Gly266Term
Cys267Tyr
Arg269Trp
Trp274Cys
Trp274Cys
Trp274Term
His275Arg
His275Gln
His275Leu
Val276Met
Ile277Ser
Ile277Val
Gly278Arg
Met279Lys
Gly280Arg
Gly280Asp
Thr281Asn
Thr281Ile
Thr281Pro
Pro283Leu
Glu284Lys
Glu284Term
Val285Ala
Val285Gly
Val285Met
His286Arg
His286Gln
His286Pro
Ile288Thr
Glu291Gly
Glu291Lys
Glu291Term
Gly292Val
His293Arg
His293Leu
Thr294Ile
Phe295Ile
Phe295Leu
Phe295Tyr
Leu296Phe
Val297Ala
Val297Gly
776G>C
775A>T
779C>G
782T>A
782T>C
785C>T
788G>A
787G>A
791T>G
791T>C
797G>A
796G>T
800G>A
805A>T
822G>C
822G>T
822G>A
824A>G
825T>A
824A>T
826G>A
830T>G
829A>G
832G>A
836T>A
838G>C
839G>A
842C>A
842C>T
841A>C
848C>T
850G>A
850G>T
854T>C
854T>G
853G>A
857A>G
858C>G
857A>C
863T>C
872A>G
871G>A
871G>T
875G>T
878A>G
878A>T
881C>T
883T>A
883T>C
884T>A
886C>T
890T>C
890T>G
R259T
R259W
S260C
L261Q
L261P
P262L
G263D
G263S
L264R
L264P
G266E
G266*
C267Y
R269W
W274C
W274C
W274*
H275R
H275Q
H275L
V276M
I277S
I277V
G278R
M279K
G280R
G280D
T281N
T281I
T281P
P283L
E284K
E284*
V285A
V285G
V285M
H286R
H286Q
H286P
I288T
E291G
E291K
E291*
G292V
H293R
H293L
T294I
F295I
F295L
F295Y
L296F
V297A
V297G
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Santacroce (2008) J Hum Genet 53:275
Vinciguerra (2006) Thromb Haemost 95:593
Vinciguerra (2006) Thromb Haemost 95:593
Rydz (2013) Am J Hematol 88:1030
Garcia‐Lozano (2007) Hum Genet 122:418
Liu (2002) Thromb Haemost 87:273
Bogdanova (2007) Hum Mutat 28:54
Chan (1996) Br J Haematol 93:451
Ravanbod (2009) J Thromb Haemost 7S2:1117
Miller (2012) Haemophilia 18:375
Schwaab (1995) Br J Haematol 91:458
Riccardi (2010) Haemophilia 16:791
Timur (2001) Haemophilia 7:475
Halldén (2012) J Thromb Haemost 10:2503
Ahmed (2005) Haematologica 90:283
Morichika (1997) Br J Haematol 98:901
Tuddenham (1994) Nucleic Acids Res 22:3511
Ahmed (2005) Haematologica 90:283
Nance (2013) Haemophilia 19:720
Arruda (1995) Blood 86:3015
Cutler (2002) F8 LSDB entry Unpublished:.
Lannoy (2012) Haemophilia 18:e331
Lin (2008) BMC Med Genet 9:53
Becker (1996) Am J Hum Genet 58:657
Reitter (2010) Thromb Haemost 104:78
Green (2008) Br J Haematol 143:115
Vencesla (2008) Blood 111:3468
Nesbitt (2005) F8 LSDB entry Unpublished:.
Castaman (2009) J Thromb Haemost 7:1824
Bogdanova (2007) Hum Mutat 28:54
Trossaërt (2011) J Thromb Haemost 9:524
Cutler (2002) Hum Mutat 19:274
Bogdanova (2001) Hum Mutat 18:546
Fernandez‐Lopez (2005) Haematologica 90:707
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Rosset (2013) Haemophilia 19:773
Reitter (2010) Thromb Haemost 104:78
Halldén (2012) J Thromb Haemost 10:2503
Colvin (1996) F8 LSDB entry Meeting abstract:
Ravanbod (2009) J Thromb Haemost 7S2:1117
Youssoufian (1988) Am J Hum Genet 42:867
Krepelova (1992) Br J Haematol 81:458
Ivaskevicius (2001) Br J Haematol 112:1062
Guillet (2006) Hum Mutat 27:676
Li (2011) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:127
Fernandez‐Lopez (2005) Haematologica 90:707
Schwaab (1995) Br J Haematol 91:458
Guillet (2006) Hum Mutat 27:676
Tagariello (2000) Haematologica 85:525
Rydz (2013) Am J Hematol 88:1030
Salviato (2007) Haemophilia 13:361
Liu (1998) Br J Haematol 103:1051
Guillet (2006) Hum Mutat 27:676
PubMed 18217193
PubMed 16601827
PubMed 16601827
PubMed 23913812
Source: Online submission
PubMed 11858487
PubMed 16972227
PubMed 8639447
PubMed: No PubMed ID
PubMed 22103590
PubMed 8547094
PubMed 20331761
PubMed 11554935
PubMed 23020595
PubMed 15710596
PubMed 9326186
PubMed 7937051
PubMed 15710596
PubMed 23711294
PubMed 7579394
Source: LSDB
PubMed 21883705
PubMed 18565236
PubMed 8644728
PubMed 20431853
PubMed 18691168
PubMed 18184865
Source: LSDB
PubMed 19719828
PubMed 16972227
PubMed 21166991
PubMed 11857744
PubMed 11748850
PubMed 15921397
PubMed 1908096
PubMed 23711237
PubMed 20431853
PubMed 23020595
Source: LSDB
PubMed: No PubMed ID
PubMed 2835904
PubMed 1356412
PubMed 11298607
PubMed 16786531
PubMed 21462120
PubMed 15921397
PubMed 8547094
PubMed 16786531
PubMed 10800171
PubMed 23913812
PubMed 17610549
PubMed 9886318
PubMed 16786531
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM053882
CM930212
CM118157
CM123893
CM053247
CM067376
CM950396
CM1314150
CM910121
CM950395
CM082642
CM103764
CM123841
CM960547
CM970471
CM1314151
CM111349
CM010845
CM930213
CM910122
CM055198
CM910123
CM123894
CM980678
CM005336
CM990535
CM071727
CM080335
CM011325
CM138662
CM062648
CM0911158
CM1314152
CM034801
CM080279
CM960548
CM020414
CM083691
CM010846
CM103765
CM071732
CM073056
CM105566
CM983738
CM070093
CM034802
CM0910935
CM1310617
CM100251
CM012938
CM103766
CM083664
CM990536
GTG‐ATG
AAC‐ATC
CAT‐AAT
CAT‐GAT
CAT‐CTT
CAT‐CCT
CGC‐TGC
CGC‐GGC
CGC‐CAC
CGC‐CTC
CGC‐CCC
CGC‐AGC
CAG‐TAG
GCG‐GAG
GCG‐CCG
TCC‐CCC
TTG‐TCG
ATC‐AGC
TCG‐TTG
TTC‐TCC
CTT‐CGT
ACT‐GCT
ACT‐AAT
ACT‐ATT
GCT‐ACT
GCT‐GTT
CTC‐CCC
GGA‐AGA
GGA‐GAA
GGA‐GTA
CAG‐CCG
CAG‐TAG
CTA‐ATA
CTA‐CCA
CTG‐CGG
CTG‐CCG
CTG‐GTG
TTT‐TTG
TGT‐TTT
TGT‐AGT
TGT‐TCT
TGT‐TAT
CAT‐CGT
ATC‐AGC
ATC‐ACC
CAA‐TAA
GAT‐TAT
GGC‐GTC
ATG‐ATA
ATG‐ACG
ATG‐GTG
GAA‐GAC
GAA‐AAA
Val297Met
Asn299Ile
His300Asn
His300Asp
His300Leu
His300Pro
Arg301Cys
Arg301Gly
Arg301His
Arg301Leu
Arg301Pro
Arg301Ser
Gln302Term
Ala303Glu
Ala303Pro
Ser304Pro
Leu305Ser
Ile307Ser
Ser308Leu
Phe312Ser
Leu313Arg
Thr314Ala
Thr314Asn
Thr314Ile
Ala315Thr
Ala315Val
Leu318Pro
Gly323Arg
Gly323Glu
Gly323Val
Gln324Pro
Gln324Term
Leu326Ile
Leu326Pro
Leu327Arg
Leu327Pro
Leu327Val
Phe328Leu
Cys329Phe
Cys329Ser
Cys329Ser
Cys329Tyr
His330Arg
Ile331Ser
Ile331Thr
Gln335Term
Asp337Tyr
Gly338Val
Met339Ile
Met339Thr
Met339Val
Glu340Asp
Glu340Lys
889G>A
896A>T
898C>A
898C>G
899A>T
899A>C
901C>T
901C>G
902G>A
902G>T
902G>C
901C>A
904C>T
908C>A
907G>C
910T>C
914T>C
920T>G
923C>T
935T>C
938T>G
940A>G
941C>A
941C>T
943G>A
944C>T
953T>C
967G>A
968G>A
968G>T
971A>C
970C>T
976C>A
977T>C
980T>G
980T>C
979C>G
984T>G
986G>T
985T>A
986G>C
986G>A
989A>G
992T>G
992T>C
1003C>T
1009G>T
1013G>T
1017G>A
1016T>C
1015A>G
1020A>C
1018G>A
V297M
N299I
H300N
H300D
H300L
H300P
R301C
R301G
R301H
R301L
R301P
R301S
Q302*
A303E
A303P
S304P
L305S
I307S
S308L
F312S
L313R
T314A
T314N
T314I
A315T
A315V
L318P
G323R
G323E
G323V
Q324P
Q324*
L326I
L326P
L327R
L327P
L327V
F328L
C329F
C329S
C329S
C329Y
H330R
I331S
I331T
Q335*
D337Y
G338V
M339I
M339T
M339V
E340D
E340K
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Boekhorst (2005) Br J Haematol 131:109
Pieneman (1993) Thromb Haemost 69:473
Trossaërt (2011) J Thromb Haemost 9:524
Miller (2012) Haemophilia 18:375
Bogdanova (2005) Hum Mutat 26:249
David (2006) Haematologica 91:840
Arruda (1995) Blood 86:3015
Rydz (2013) Am J Hematol 88:1030
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Schwaab (1995) Br J Haematol 91:458
Ma (2008) Haemophilia 14:787
Xue (2010) Eur J Haematol 85:264
Miller (2012) Haemophilia 18:375
Rudzki (1996) Br J Haematol 94:400
Mazurier (1997) Br J Haematol 96:426
Rydz (2013) Am J Hematol 88:1030
Gouw (2011) Haemophilia 17:275
Tagariello (2000) Haematologica 85:525
McGinniss (1993) Genomics 15:392
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Riccardi (2010) Haemophilia 16:791
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Miller (2012) Haemophilia 18:375
Freson (1998) Hum Mutat 11:470
d'Oiron (2000) F8 LSDB entry Unpublished:.
Waseem (1999) Thromb Haemost 81:900
Castaman (2007) Haemophilia 13:311
Santacroce (2008) J Hum Genet 53:275
Ivaskevicius (2001) Br J Haematol 112:1062
Rosset (2013) Haemophilia 19:773
Guillet (2006) Hum Mutat 27:676
Ravanbod (2009) J Thromb Haemost 7S2:1117
Rydz (2013) Am J Hematol 88:1030
Habart (2003) J Thromb Haemost 1:773
Santacroce (2008) J Hum Genet 53:275
Becker (1996) Am J Hum Genet 58:657
Cutler (2002) Hum Mutat 19:274
Green (2008) Br J Haematol 143:115
Habart (2003) J Thromb Haemost 1:773
Xue (2010) Eur J Haematol 85:264
Han (2007) Haemophilia 13:331
Salviato (2007) Haemophilia 13:361
Nair (2010) Clin Chim Acta 411:2004
Freson (1998) Hum Mutat 11:470
Bogdanova (2007) Hum Mutat 28:54
Habart (2003) J Thromb Haemost 1:773
Markoff (2009) Haemophilia 15:932
Schwaab (2013) Thromb Haemost 109:464
Awidi (2010) Haemophilia 16:136
Bogdanova (2001) Hum Mutat 18:546
Xue (2010) Eur J Haematol 85:264
Green (2008) Br J Haematol 143:115
Waseem (1999) Thromb Haemost 81:900
PubMed 16173970
PubMed 8322269
PubMed 21166991
PubMed 22103590
PubMed 16086318
PubMed 16769589
PubMed 7579394
PubMed 23913812
PubMed 1908096
PubMed 8547094
PubMed 18371163
PubMed 20528906
PubMed 22103590
PubMed 8759905
PubMed 9029040
PubMed 23913812
PubMed 21070499
PubMed 10800171
PubMed 8449505
PubMed 1908096
PubMed 20331761
PubMed 1924291
PubMed 22103590
PubMed 9603440
Source: LSDB
PubMed 10404764
PubMed 17498081
PubMed 18217193
PubMed 11298607
PubMed 23711237
PubMed 16786531
PubMed: No PubMed ID
PubMed 23913812
PubMed 12871415
PubMed 18217193
PubMed 8644728
PubMed 11857744
PubMed 18691168
PubMed 12871415
PubMed 20528906
PubMed 17498085
PubMed 17610549
PubMed 20800587
PubMed 9603440
PubMed 16972227
PubMed 12871415
PubMed 19473423
PubMed 23306409
PubMed 19817879
PubMed 11748850
PubMed 20528906
PubMed 18691168
PubMed 10404764
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM055219
CM930214
CM080260
CM083655
CM022345
CM900086
CM900087
CM952096
CM950397
CM0911157
CM880025
CM088374
CM020415
CM1314153
CM070109
CM085395
CM0911154
CM062645
CM890046
CM055225
CM890045
CM921006
CM930216
CM970472
CM930215
CM055220
CM081259
CM083642
HM070056
CM0911138
CM082629
CM145564
CM057449
CM080337
CM010847
CM055233
CM010848
CM0911141
CM0911113
CM136646
CM990537
CM930217
CM123895
CM950398
CM055201
CM020112
CM990538
CM1313582
CM083685
CM083686
CM062671
CM103767
CM053260
TAT‐TGT
TAT‐TAA
AAA‐CAA
AAA‐TAA
GTA‐GCA
GTA‐CTA
TGT‐CGT
TGT‐TCT
TGT‐TAT
CAA‐TAA
CGA‐TGA
GAC‐AAC
TAT‐TGT
TAT‐CAT
GTG‐GGG
ATC‐ACC
CAA‐TAA
ATT‐ACT
CGC‐TGC
CGC‐GGC
CGC‐CAC
CGC‐CCC
TCA‐TTA
TCA‐CCA
TCA‐TAA
TCA‐TGA
GCC‐TCC
AAG‐AGG
AAG‐AAC
AAG‐GAG
AAG‐ATG
AAG‐TAG
AAA‐GAA
TGG‐TGC
TGG‐GGG
TGG‐TGA
CAT‐GAT
CAT‐CTT
TAC‐GAC
TAC‐TAA
ATT‐TTT
ATT‐AGT
ATT‐ACT
GAG‐GGG
GAC‐GGC
TGG‐CGG
TGG‐GGG
TGG‐TTG
TGG‐TAG
TGG‐TGA
GAC‐CAC
GAC‐TAC
TAT‐TGT
Tyr342Cys
Tyr342Term
Lys344Gln
Lys344Term
Val345Ala
Val345Leu
Cys348Arg
Cys348Ser
Cys348Tyr
Gln353Term
Arg355Term
Asp364Asn
Tyr365Cys
Tyr365His
Val376Gly
Ile388Thr
Gln389Term
Ile390Thr
Arg391Cys
Arg391Gly
Arg391His
Arg391Pro
Ser392Leu
Ser392Pro
Ser392Term
Ser392Term
Ala394Ser
Lys395Arg
Lys395Asn
Lys395Glu
Lys396Met
Lys396Term
Lys399Glu
Trp401Cys
Trp401Gly
Trp401Term
His403Asp
His403Leu
Tyr404Asp
Tyr404Term
Ile405Phe
Ile405Ser
Ile405Thr
Glu409Gly
Asp411Gly
Trp412Arg
Trp412Gly
Trp412Leu
Trp412Term
Trp412Term
Asp413His
Asp413Tyr
Tyr414Cys
1025A>G
1026T>A
1030A>C
1030A>T
1034T>C
1033G>C
1042T>C
1043G>C
1043G>A
1057C>T
1063C>T
1090G>A
1094A>G
1093T>C
1127T>G
1163T>C
1165C>T
1169T>C
1171C>T
1171C>G
1172G>A
1172G>C
1175C>T
1174T>C
1175C>A
1175C>G
1180G>T
1184A>G
1185G>C
1183A>G
1187A>T
1186A>T
1195A>G
1203G>C
1201T>G
1203G>A
1207C>G
1208A>T
1210T>G
1212C>A
1213A>T
1214T>G
1214T>C
1226A>G
1232A>G
1234T>C
1234T>G
1235G>T
1235G>A
1236G>A
1237G>C
1237G>T
1241A>G
Y342C
Y342*
K344Q
K344*
V345A
V345L
C348R
C348S
C348Y
Q353*
R355*
D364N
Y365C
Y365H
V376G
I388T
Q389*
I390T
R391C
R391G
R391H
R391P
S392L
S392P
S392*
S392*
A394S
K395R
K395N
K395E
K396M
K396*
K399E
W401C
W401G
W401*
H403D
H403L
Y404D
Y404*
I405F
I405S
I405T
E409G
D411G
W412R
W412G
W412L
W412*
W412*
D413H
D413Y
Y414C
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Riccardi (2010) Haemophilia 16:791
Lin (1993) Genomics 18:496
Santacroce (2008) J Hum Genet 53:275
Green (2008) Br J Haematol 143:115
Citron (2002) Hum Mutat 20:267
Kogan (1990) Proc Natl Acad Sci U S A 87:2092
Kogan (1990) Proc Natl Acad Sci U S A 87:2092
David (1995) Hum Genet 95:109
Nafa (1995) Hum Mutat 5:357
Ravanbod (2009) J Thromb Haemost 7S2:1117
Gitschier (1988) Blood 72:1022
Casaña (2008) Haematologica 93:1091
Cutler (2002) Hum Mutat 19:274
Rydz (2013) Am J Hematol 88:1030
Bogdanova (2007) Hum Mutat 28:54
Trossaert (2008) J Thromb Haemost 6:486
Ravanbod (2009) J Thromb Haemost 7S2:1117
Guillet (2006) Hum Mutat 27:676
Shima (1989) Blood 74:1612
Bicocchi (2005) Eur J Hum Genet 13:635
Arai (1989) Proc Natl Acad Sci U S A 86:4277
Lavergne (1992) Nouv Rev Fr Hematol 34:85
Acquila (1993) Thromb Haemost 69:392
Schwaab (1997) Hum Genet 101:323
Acquila (1993) Thromb Haemost 69:392
Gallardo (2005) F8 LSDB entry Unpublished:.
Vencesla (2008) Blood 111:3468
Green (2008) Br J Haematol 143:115
Garcia‐Lozano (2007) Hum Genet 122:419
Ravanbod (2009) J Thromb Haemost 7S2:1117
Fidanci (2008) Blood Coagul Fibrinolysis 19:383
Nair (2014) PLoS One 9:e97337
Fernandez‐Lopez (2005) Haematologica 90:707
Santacroce (2008) J Hum Genet 53:275
Habart (2003) J Thromb Haemost 1:773
Ahmed (2005) Haematologica 90:283
Ljung (2001) F8 LSDB entry Unpublished:
Ravanbod (2009) J Thromb Haemost 7S2:1117
Ravanbod (2009) J Thromb Haemost 7S2:1117
Rossetti (2013) Haemophilia 19:511
Waseem (1999) Thromb Haemost 81:900
Lin (1993) Genomics 18:496
Miller (2012) Haemophilia 18:375
Schwaab (1995) Br J Haematol 91:458
Lillicrap (2005) F8 LSDB entry Unpublished:.
Liu (2002) Thromb Haemost 87:273
Waseem (1999) Thromb Haemost 81:900
Gorziza (2013) Blood Coagul Fibrinolysis 24:164
Green (2008) Br J Haematol 143:115
Green (2008) Br J Haematol 143:115
Guillet (2006) Hum Mutat 27:676
Xue (2010) Eur J Haematol 85:264
Bogdanova (2005) Hum Mutat 26:249
PubMed 20331761
PubMed 8307558
PubMed 18217193
PubMed 18691168
PubMed 12325022
PubMed 2107542
PubMed 2107542
PubMed 7814012
PubMed 7627196
PubMed: No PubMed ID
PubMed 3137981
PubMed 18403393
PubMed 11857744
PubMed 23913812
PubMed 16972227
PubMed 18047548
PubMed: No PubMed ID
PubMed 16786531
PubMed 2506948
PubMed 15741993
PubMed 2498882
PubMed 1523102
PubMed 8497853
PubMed 9439662
PubMed 8497853
Source: LSDB
PubMed 18184865
PubMed 18691168
Source: Online submission
PubMed: No PubMed ID
PubMed 18600086
PubMed 24845853
PubMed 15921397
PubMed 18217193
PubMed 12871415
PubMed 15710596
Source: LSDB
PubMed: No PubMed ID
PubMed: No PubMed ID
PubMed 23534532
PubMed 10404764
PubMed 8307558
PubMed 22103590
PubMed 8547094
Source: LSDB
PubMed 11858487
PubMed 10404764
PubMed 23249616
PubMed 18691168
PubMed 18691168
PubMed 16786531
PubMed 20528906
PubMed 16086318
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM062666
CM061747
CM082640
CM0911156
CM055193
CM082631
CM980679
CM066805
CM910124
CM020416
CM081610
CM020417
CM980680
CM020113
CM062646
CM080307
CM020275
CM080340
CM031983
CM980681
CM080309
CM022346
CM910125
CM0911142
CM053241
CM061735
CM123896
CM066803
CM062653
CM053250
CM900088
CM0911111
CM930218
CM050253
CM067383
CM129743
CM011326
CM980682
CM012939
CM080342
CM053881
CM0910294
CM010849
CM1212714
CM080254
CM014184
CM082635
CM070103
CM111350
CM020114
CM980683
CM990539
CM080286
GCT‐GAT
GCT‐GTT
CCC‐CTC
TTA‐TGA
GAT‐CAT
AGA‐AGC
AAA‐ATA
CAA‐TAA
TTG‐TTT
TTG‐TCG
GGC‐GAC
CGG‐CCG
CGG‐TGG
ATT‐TTT
ATT‐ACT
GGT‐GCT
GGT‐GAT
GGT‐TGT
GGT‐AGT
GGT‐GTT
TAC‐AAC
TAC‐TGC
AAA‐AGA
AAA‐AAC
AAA‐AAT
AAA‐ACA
GTC‐TTC
CGA‐CAA
CGA‐GGA
CGA‐CCA
CGA‐TGA
TTT‐TCT
TAC‐AAC
TAC‐GAC
TAC‐TGC
TAC‐TAA
GAA‐TAA
ACC‐ATC
TTT‐TGT
TTT‐TCT
CGT‐TGT
GAA‐TAA
TCA‐TGA
GGA‐GCA
GGA‐AGA
GGA‐GAA
ATC‐AGC
GGA‐GCA
GGA‐GAA
CCT‐CGT
CCT‐CTT
CCT‐ACT
CTT‐CAT
Ala415Asp
Ala415Val
Pro416Leu
Leu417Term
Asp422His
Arg424Ser
Lys427Ile
Gln429Term
Leu431Phe
Leu431Ser
Gly434Asp
Arg437Pro
Arg437Trp
Ile438Phe
Ile438Thr
Gly439Ala
Gly439Asp
Gly439Cys
Gly439Ser
Gly439Val
Tyr442Asn
Tyr442Cys
Lys444Arg
Lys444Asn
Lys444Asn
Lys444Thr
Val445Phe
Arg446Gln
Arg446Gly
Arg446Pro
Arg446Term
Phe447Ser
Tyr450Asn
Tyr450Asp
Tyr450Cys
Tyr450Term
Glu453Term
Thr454Ile
Phe455Cys
Phe455Ser
Arg458Cys
Glu464Term
Ser465Term
Gly466Ala
Gly466Arg
Gly466Glu
Ile467Ser
Gly469Ala
Gly469Glu
Pro470Arg
Pro470Leu
Pro470Thr
Leu472His
1244C>A
1244C>T
1247C>T
1250T>G
1264G>C
1272A>C
1280A>T
1285C>T
1293G>T
1292T>C
1301G>A
1310G>C
1309C>T
1312A>T
1313T>C
1316G>C
1316G>A
1315G>T
1315G>A
1316G>T
1324T>A
1325A>G
1331A>G
1332A>C
1332A>T
1331A>C
1333G>T
1337G>A
1336C>G
1337G>C
1336C>T
1340T>C
1348T>A
1348T>G
1349A>G
1350C>A
1357G>T
1361C>T
1364T>G
1364T>C
1372C>T
1390G>T
1394C>G
1397G>C
1396G>A
1397G>A
1400T>G
1406G>C
1406G>A
1409C>G
1409C>T
1408C>A
1415T>A
A415D
A415V
P416L
L417*
D422H
R424S
K427I
Q429*
L431F
L431S
G434D
R437P
R437W
I438F
I438T
G439A
G439D
G439C
G439S
G439V
Y442N
Y442C
K444R
K444N
K444N
K444T
V445F
R446Q
R446G
R446P
R446*
F447S
Y450N
Y450D
Y450C
Y450*
E453*
T454I
F455C
F455S
R458C
E464*
S465*
G466A
G466R
G466E
I467S
G469A
G469E
P470R
P470L
P470T
L472H
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Guillet (2006) Hum Mutat 27:676
Vinciguerra (2006) Thromb Haemost 95:593
Lin (2008) BMC Med Genet 9:53
Ravanbod (2009) J Thromb Haemost 7S2:1117
Chuansumrit (2005) F8 LSDB entry Unpublished:.
Fidanci (2008) Blood Coagul Fibrinolysis 19:383
Liu (1998) Br J Haematol 103:1051
Berber (2006) J Thromb Haemost 4:1756
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Cutler (2002) Hum Mutat 19:274
Abu‐Amero (2008) Haemophilia 14:484
Cutler (2002) Hum Mutat 19:274
Liu (1998) Br J Haematol 103:1051
Liu (2002) Thromb Haemost 87:273
Guillet (2006) Hum Mutat 27:676
Santacroce (2008) J Hum Genet 53:275
Liu (2002) Thromb Haemost 87:273
Santacroce (2008) J Hum Genet 53:275
Bicocchi (2003) Br J Haematol 122:810
Laprise (1998) Hum Mutat 12:393
Santacroce (2008) J Hum Genet 53:275
Citron (2002) Hum Mutat 20:267
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Ravanbod (2009) J Thromb Haemost 7S2:1117
Ahmed (2005) Haematologica 90:283
Vinciguerra (2006) Thromb Haemost 95:593
Miller (2012) Haemophilia 18:375
Berber (2006) J Thromb Haemost 4:1756
Guillet (2006) Hum Mutat 27:676
Bogdanova (2005) Hum Mutat 26:249
Pattinson (1990) Blood 76:2242
Ravanbod (2009) J Thromb Haemost 7S2:1117
Pieneman (1993) Thromb Haemost 69:473
Bicocchi (2005) Am J Hematol 78:117
David (2006) Haematologica 91:840
Kim (2012) Haemophilia 18:1008
Ivaskevicius (2001) Br J Haematol 112:1062
Liu (1998) Br J Haematol 103:1051
Bogdanova (2001) Hum Mutat 18:546
Santacroce (2008) J Hum Genet 53:275
Boekhorst (2005) Br J Haematol 131:109
Abdul‐Ghafar (2009) Haemophilia 16:551
Leuer (2001) Am J Hum Genet 69:75
Halldén (2012) J Thromb Haemost 10:2503
Santacroce (2008) J Hum Genet 53:275
Theophilus (2001) Haemophilia 7:381
Lin (2008) BMC Med Genet 9:53
Bogdanova (2007) Hum Mutat 28:54
Gouw (2011) Haemophilia 17:275
Liu (2002) Thromb Haemost 87:273
Liu (1998) Br J Haematol 103:1051
Waseem (1999) Thromb Haemost 81:900
Santacroce (2008) J Hum Genet 53:275
PubMed 16786531
PubMed 16601827
PubMed 18565236
PubMed: No PubMed ID
Source: LSDB
PubMed 18600086
PubMed 9886318
PubMed 16879218
PubMed 1924291
PubMed 11857744
PubMed 18371166
PubMed 11857744
PubMed 9886318
PubMed 11858487
PubMed 16786531
PubMed 18217193
PubMed 11858487
PubMed 18217193
PubMed 12930394
PubMed 9829908
PubMed 18217193
PubMed 12325022
PubMed 1908096
PubMed: No PubMed ID
PubMed 15710596
PubMed 16601827
PubMed 22103590
PubMed 16879218
PubMed 16786531
PubMed 16086318
PubMed 1979502
PubMed: No PubMed ID
PubMed 8322269
PubMed 15682412
PubMed 16769589
PubMed 22741565
PubMed 11298607
PubMed 9886318
PubMed 11748850
PubMed 18217193
PubMed 16173970
PubMed 20028422
PubMed 11410838
PubMed 23020595
PubMed 18217193
PubMed 11442643
PubMed 18565236
PubMed 16972227
PubMed 21070499
PubMed 11858487
PubMed 9886318
PubMed 10404764
PubMed 18217193
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM145557
CM108709
CM980684
CM990540
CM094291
CM081255
CM015874
CM087474
CM021986
CM0910942
CM990541
CM062661
CM055202
CM103768
CM083666
CM082637
CM990542
CM108710
CM973028
CM083645
HM070049
CM950399
CM098262
CM0910943
CM010850
CM106048
CM990543
CM0911143
CM910126
CM910127
CM1314154
CM950400
CM031984
CM081249
CM930219
CM057447
CM055212
CM014185
CM136647
CM010851
CM055237
CM020115
CM081257
CM108711
CM141483
CM105300
CM031985
CM062680
CM053871
CM022347
CM062691
CM1313583
CM055213
TAT‐TGT
TAT‐TAG
GGG‐AGG
GGG‐GAG
GGG‐TGG
GGG‐GTG
GAA‐AAA
GAA‐GTA
GGA‐GTA
GAC‐GCC
GAC‐AAC
GAC‐GAA
GAC‐GGC
CTG‐CCG
ATT‐TTT
ATT‐AGT
TTT‐TGT
TTT‐GTT
AAG‐ACG
AAT‐AGT
GCA‐GAA
GCA‐GGA
GCA‐CCA
GCA‐ACA
GCA‐GTA
AGC‐AAC
AGA‐GGA
AGA‐AGT
TAT‐TGT
TAT‐CAT
AAC‐GAC
ATC‐ACC
TAC‐TAG
CCT‐CGT
GGA‐AGA
GTC‐GAC
GTC‐GGC
CGT‐CAT
TCA‐TAA
TCA‐TGA
TTA‐TAA
GGT‐AGT
GGT‐GTT
GGA‐AGA
GAA‐TAA
AAA‐AAC
AAA‐GAA
TAT‐TGT
TAT‐CAT
TGG‐GGG
TGG‐TAG
TGG‐TGA
GTG‐GGG
Tyr473Cys
Tyr473Term
Gly474Arg
Gly474Glu
Gly474Trp
Gly474Val
Glu475Lys
Glu475Val
Gly477Val
Asp478Ala
Asp478Asn
Asp478Glu
Asp478Gly
Leu480Pro
Ile482Phe
Ile482Ser
Phe484Cys
Phe484Val
Lys485Thr
Asn486Ser
Ala488Glu
Ala488Gly
Ala488Pro
Ala488Thr
Ala488Val
Ser489Asn
Arg490Gly
Arg490Ser
Tyr492Cys
Tyr492His
Asn493Asp
Ile494Thr
Tyr495Term
Pro496Arg
Gly498Arg
Val502Asp
Val502Gly
Arg503His
Ser507Term
Ser507Term
Leu510Term
Gly513Ser
Gly513Val
Gly525Arg
Glu526Term
Lys529Asn
Lys529Glu
Tyr530Cys
Tyr530His
Trp532Gly
Trp532Term
Trp532Term
Val534Gly
1418A>G
1419T>G
1420G>A
1421G>A
1420G>T
1421G>T
1423G>A
1424A>T
1430G>T
1433A>C
1432G>A
1434C>A
1433A>G
1439T>C
1444A>T
1445T>G
1451T>G
1450T>G
1454A>C
1457A>G
1463C>A
1463C>G
1462G>C
1462G>A
1463C>T
1466G>A
1468A>G
1470A>T
1475A>G
1474T>C
1477A>G
1481T>C
1485C>G
1487C>G
1492G>A
1505T>A
1505T>G
1508G>A
1520C>A
1520C>G
1529T>A
1537G>A
1538G>T
1573G>A
1576G>T
1587A>C
1585A>G
1589A>G
1588T>C
1594T>G
1595G>A
1596G>A
1601T>G
Y473C
Y473*
G474R
G474E
G474W
G474V
E475K
E475V
G477V
D478A
D478N
D478E
D478G
L480P
I482F
I482S
F484C
F484V
K485T
N486S
A488E
A488G
A488P
A488T
A488V
S489N
R490G
R490S
Y492C
Y492H
N493D
I494T
Y495*
P496R
G498R
V502D
V502G
R503H
S507*
S507*
L510*
G513S
G513V
G525R
E526*
K529N
K529E
Y530C
Y530H
W532G
W532*
W532*
V534G
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Nair (2014) PLoS One 9:e97337
Reitter (2010) Thromb Haemost 104:78
Freson (1998) Hum Mutat 11:470
Waseem (1999) Thromb Haemost 81:900
Sirocova (2009) Haemophilia 15:942
Vencesla (2008) Blood 111:3468
Timur (2001) Haemophilia 7:475
Stefanovska (2008) Balkan J Med Genet 11(1):55
Frusconi (2002) Hum Mutat 20:231
Markoff (2009) Haemophilia 15:932
Waseem (1999) Thromb Haemost 81:900
Guillet (2006) Hum Mutat 27:676
Lillicrap (2005) F8 LSDB entry Unpublished:.
Xue (2010) Eur J Haematol 85:264
Green (2008) Br J Haematol 143:115
Djambas Khayat (2008) Haemophilia 14:709
Waseem (1999) Thromb Haemost 81:900
Reitter (2010) Thromb Haemost 104:78
Liu (1997) Zhonghua Xue Ye Xue Za Zhi 18:464
Green (2008) Br J Haematol 143:115
Garcia‐Lozano (2007) Hum Genet 122:417
Schwaab (1995) Br J Haematol 91:458
Jayandharan (2009) Haemophilia 15:1228
Markoff (2009) Haemophilia 15:932
Ljung (2001) F8 LSDB entry Unpublished:
Wang (2010) Haemophilia 16:632
Waseem (1999) Thromb Haemost 81:900
Ravanbod (2009) J Thromb Haemost 7S2:1117
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Rydz (2013) Am J Hematol 88:1030
Schwaab (1995) Br J Haematol 91:458
Bicocchi (2003) Br J Haematol 122:810
Vencesla (2008) Blood 111:3468
Naylor (1993) Hum Mol Genet 2:11
Fernandez‐Lopez (2005) Haematologica 90:707
Lillicrap (2005) F8 LSDB entry Unpublished:.
Theophilus (2001) Haemophilia 7:381
Rossetti (2013) Haemophilia 19:511
Habart (2001) F8 LSDB entry Unpublished:
Ahmed (2005) Haematologica 90:283
Liu (2002) Thromb Haemost 87:273
Vencesla (2008) Blood 111:3468
Reitter (2010) Thromb Haemost 104:78
Khanum (2014) Haemophilia 20:287
Riccardi (2010) Haemophilia 16:791
Bicocchi (2003) Br J Haematol 122:810
David (2006) Haematologica 91:840
Boekhorst (2005) Br J Haematol 131:109
Citron (2002) Hum Mutat 20:267
Guillet (2006) Hum Mutat 27:676
Gorziza (2013) Blood Coagul Fibrinolysis 24:164
Ljung (2005) F8 LSDB entry Unpublished:.
PubMed 24845853
PubMed 20431853
PubMed 9603440
PubMed 10404764
PubMed 19473408
PubMed 18184865
PubMed 11554935
PubMed: No PubMed ID
PubMed 12203998
PubMed 19473423
PubMed 10404764
PubMed 16786531
Source: LSDB
PubMed 20528906
PubMed 18691168
PubMed 18479430
PubMed 10404764
PubMed 20431853
PubMed 15625837
PubMed 18691168
Source: Online submission
PubMed 8547094
PubMed 19686262
PubMed 19473423
Source: LSDB
PubMed 20331753
PubMed 10404764
PubMed: No PubMed ID
PubMed 1924291
PubMed 1908096
PubMed 23913812
PubMed 8547094
PubMed 12930394
PubMed 18184865
PubMed 8490618
PubMed 15921397
Source: LSDB
PubMed 11442643
PubMed 23534532
Source: LSDB
PubMed 15710596
PubMed 11858487
PubMed 18184865
PubMed 20431853
PubMed 24118398
PubMed 20331761
PubMed 12930394
PubMed 16769589
PubMed 16173970
PubMed 12325022
PubMed 16786531
PubMed 23249616
Source: LSDB
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM123897
CM127361
CM055210
CM088394
CM034803
CM980685
CM116676
CM970473
CM071728
CM0911133
CM070099
CM910128
CM1314155
CM053262
CM054679
CM910130
CM910129
CM950401
CM135807
CM1314156
CM082664
CM076180
CM083682
CM980686
CM1314157
CM012940
CM920255
CM980687
CM108712
CM082645
CM980688
CM010852
CM0910290
CM0911149
CM910131
CM990544
CM993336
CM098102
CM053878
CM062639
CM141473
CM053244
CM1314158
CM070097
CM035561
CM129740
CM0911132
CM055230
CM055208
CM081250
CM083658
CM062688
CM0910944
GGG‐AGG
GGG‐CGG
GGG‐GAG
CCA‐CGA
CCA‐ACA
ACT‐TCT
TCA‐TGA
GAT‐AAT
GAT‐GAA
CCT‐CGT
CCT‐CAT
CGG‐TGG
TGC‐TCC
TGC‐TGG
TGC‐TAC
CGC‐TGC
CGC‐GGC
CGC‐CAC
CGC‐CCC
TAT‐TGT
TAC‐CAC
TAC‐TAA
TCT‐TGT
TCT‐CCT
AGT‐AAT
AGT‐TGT
AGT‐GGT
GTT‐GAT
GAG‐TAG
AGA‐GGA
AGA‐ACA
GAT‐GCT
GAT‐AAT
GAT‐GAA
GAT‐GGT
GAT‐CAT
GAT‐TAT
CTA‐CCA
GCT‐GGT
GGA‐AGA
GGA‐GAA
CTC‐TTC
CTC‐GTC
ATT‐TTT
ATT‐ACT
GGC‐GAC
GGC‐TGC
GGC‐AGC
GGC‐GTC
CCT‐CGT
ATC‐TTC
TGC‐TAC
GAA‐AAA
Gly539Arg
Gly539Arg
Gly539Glu
Pro540Arg
Pro540Thr
Thr541Ser
Ser543Term
Asp544Asn
Asp544Glu
Pro545Arg
Pro545His
Arg546Trp
Cys547Ser
Cys547Trp
Cys547Tyr
Arg550Cys
Arg550Gly
Arg550His
Arg550Pro
Tyr551Cys
Tyr552His
Tyr552Term
Ser553Cys
Ser553Pro
Ser554Asn
Ser554Cys
Ser554Gly
Val556Asp
Glu559Term
Arg560Gly
Arg560Thr
Asp561Ala
Asp561Asn
Asp561Glu
Asp561Gly
Asp561His
Asp561Tyr
Leu562Pro
Ala563Gly
Gly565Arg
Gly565Glu
Leu566Phe
Leu566Val
Ile567Phe
Ile567Thr
Gly568Asp
Gly568Cys
Gly568Ser
Gly568Val
Pro569Arg
Ile572Phe
Cys573Tyr
Glu576Lys
1615G>A
1615G>C
1616G>A
1619C>G
1618C>A
1621A>T
1628C>G
1630G>A
1632T>A
1634C>G
1634C>A
1636C>T
1640G>C
1641C>G
1640G>A
1648C>T
1648C>G
1649G>A
1649G>C
1652A>G
1654T>C
1656C>A
1658C>G
1657T>C
1661G>A
1660A>T
1660A>G
1667T>A
1675G>T
1678A>G
1679G>C
1682A>C
1681G>A
1683T>A
1682A>G
1681G>C
1681G>T
1685T>C
1688C>G
1693G>A
1694G>A
1696C>T
1696C>G
1699A>T
1700T>C
1703G>A
1702G>T
1702G>A
1703G>T
1706C>G
1714A>T
1718G>A
1726G>A
G539R
G539R
G539E
P540R
P540T
T541S
S543*
D544N
D544E
P545R
P545H
R546W
C547S
C547W
C547Y
R550C
R550G
R550H
R550P
Y551C
Y552H
Y552*
S553C
S553P
S554N
S554C
S554G
V556D
E559*
R560G
R560T
D561A
D561N
D561E
D561G
D561H
D561Y
L562P
A563G
G565R
G565E
L566F
L566V
I567F
I567T
G568D
G568C
G568S
G568V
P569R
I572F
C573Y
E576K
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Miller (2012) Haemophilia 18:375
Elmahmoudi (2012) Diagn Pathol 7:93
Guillet (2006) Hum Mutat 27:676
Casaña (2008) Haematologica 93:1091
Habart (2003) J Thromb Haemost 1:773
Liu (1998) Br J Haematol 103:1051
Albánez (2011) Haemophilia 17:e913
Schwaab (1997) Hum Genet 101:323
Castaman (2007) Haemophilia 13:311
Ravanbod (2009) J Thromb Haemost 7S2:1117
Bogdanova (2007) Hum Mutat 28:54
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Rydz (2013) Am J Hematol 88:1030
Bogdanova (2005) Hum Mutat 26:249
Jayandharan (2005) Haemophilia 11:481
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Schwaab (1995) Br J Haematol 91:458
Rossetti (2013) Haemophilia 19:511
Rydz (2013) Am J Hematol 88:1030
Djambas Khayat (2008) Haemophilia 14:709
Rossetti (2007) Haematologica 92:842
Green (2008) Br J Haematol 143:115
Liu (1998) Br J Haematol 103:1051
Rydz (2013) Am J Hematol 88:1030
Bogdanova (2001) Hum Mutat 18:546
Diamond (1992) Hum Mutat 1:248
Tavassoli (1998) Hum Mutat 12:301
Reitter (2010) Thromb Haemost 104:78
Lin (2008) BMC Med Genet 9:53
Liu (1998) Br J Haematol 103:1051
Tagariello (2001) F8 LSDB entry Unpublished:
Borchiellini (2009) Haemophilia :
Ravanbod (2009) J Thromb Haemost 7S2:1117
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Waseem (1999) Thromb Haemost 81:900
Akkarapatumwong (1999) Hum Mutat 15:117
Castaman (2009) J Thromb Haemost 7:1824
Boekhorst (2005) Br J Haematol 131:109
Berber (2006) Haemophilia 12:398
Khanum (2014) Haemophilia 20:287
Bogdanova (2005) Hum Mutat 26:249
Rydz (2013) Am J Hematol 88:1030
Bogdanova (2007) Hum Mutat 28:54
Bicocchi (2003) Br J Haematol 122:810
Kim (2012) Haemophilia 18:1008
Ravanbod (2009) J Thromb Haemost 7S2:1117
Ahmed (2005) Haematologica 90:283
Casey (2005) F8 LSDB entry Unpublished:.
Vencesla (2008) Blood 111:3468
Green (2008) Br J Haematol 143:115
Guillet (2006) Hum Mutat 27:676
Markoff (2009) Haemophilia 15:932
PubMed 22103590
PubMed 22883072
PubMed 16786531
PubMed 18403393
PubMed 12871415
PubMed 9886318
PubMed 21371196
PubMed 9439662
PubMed 17498081
PubMed: No PubMed ID
PubMed 16972227
PubMed 1924291
PubMed 23913812
PubMed 16086318
PubMed 16128892
PubMed 1924291
PubMed 1924291
PubMed 8547094
PubMed 23534532
PubMed 23913812
PubMed 18479430
PubMed 17550859
PubMed 18691168
PubMed 9886318
PubMed 23913812
PubMed 11748850
PubMed 1301932
PubMed 9792405
PubMed 20431853
PubMed 18565236
PubMed 9886318
Source: LSDB
PubMed 20015216
PubMed: No PubMed ID
PubMed 1908096
PubMed 10404764
PubMed 10612839
PubMed 19719828
PubMed 16173970
PubMed 16834740
PubMed 24118398
PubMed 16086318
PubMed 23913812
PubMed 16972227
PubMed 12930394
PubMed 22741565
PubMed: No PubMed ID
PubMed 15710596
Source: LSDB
PubMed 18184865
PubMed 18691168
PubMed 16786531
PubMed 19473423
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM920256
CM930220
CM062642
CM123898
CM980689
CM010853
CM123899
CM129822
CM020418
CM1314159
CM080325
CM070104
CM1212715
CM062668
CM145558
CM020116
CM990545
CM020419
CM910132
CM003812
CM940399
CM138663
CM011327
CM012941
CM1314160
CM1314161
CM990546
CM129823
CM034804
CM1212966
CM0911117
CM020117
CM135808
CM940400
CM0910945
CM080293
CM123900
CM0911112
CM990547
CM990549
CM990548
CM990550
CM900089
CM980690
CM123901
CM083804
CM940401
CM083649
CM080281
CM930221
CM080333
CM082662
CM080317
GAA‐TAA
TCT‐TTT
TCT‐CCT
TCT‐TAT
GTA‐GCA
GAT‐GCT
GAT‐AAT
GAT‐GGT
GAT‐CAT
GAT‐GTT
CAA‐TAA
GGA‐GCA
GGA‐AGA
GGA‐GAA
GGA‐GTA
AAC‐AGC
CAG‐CGG
CAG‐CAT
CAG‐AAG
ATA‐AGA
ATA‐ACA
ATG‐AAG
ATG‐GTG
TCA‐TAA
GAC‐AAC
GAC‐GAA
GAC‐GGC
GAC‐CAC
GAC‐TAC
GAC‐GTC
ATC‐AAC
CTG‐CAG
CTG‐CCG
TCT‐CCT
GAT‐CAT
GAG‐GAT
GAG‐CAG
GAG‐AAG
GAG‐TAG
AAC‐GAC
AAC‐AAG
CGA‐GGA
CGA‐TGA
AGC‐AGG
AGC‐TGC
AGC‐GGC
AGC‐ATC
AGC‐ACC
TGG‐CGG
TGG‐TGC
TGG‐TAG
TGG‐TGA
TAC‐TGC
Glu576Term
Ser577Phe
Ser577Pro
Ser577Tyr
Val578Ala
Asp579Ala
Asp579Asn
Asp579Gly
Asp579His
Asp579Val
Gln580Term
Gly582Ala
Gly582Arg
Gly582Glu
Gly582Val
Asn583Ser
Gln584Arg
Gln584His
Gln584Lys
Ile585Arg
Ile585Thr
Met586Lys
Met586Val
Ser587Term
Asp588Asn
Asp588Glu
Asp588Gly
Asp588His
Asp588Tyr
Asp588Val
Ile593Asn
Leu594Gln
Leu594Pro
Ser596Pro
Asp599His
Glu600Asp
Glu600Gln
Glu600Lys
Glu600Term
Asn601Asp
Asn601Lys
Arg602Gly
Arg602Term
Ser603Arg
Ser603Cys
Ser603Gly
Ser603Ile
Ser603Thr
Trp604Arg
Trp604Cys
Trp604Term
Trp604Term
Tyr605Cys
1726G>T
1730C>T
1729T>C
1730C>A
1733T>C
1736A>C
1735G>A
1736A>G
1735G>C
1736A>T
1738C>T
1745G>C
1744G>A
1745G>A
1745G>T
1748A>G
1751A>G
1752G>T
1750C>A
1754T>G
1754T>C
1757T>A
1756A>G
1760C>A
1762G>A
1764C>A
1763A>G
1762G>C
1762G>T
1763A>T
1778T>A
1781T>A
1781T>C
1786T>C
1795G>C
1800G>T
1798G>C
1798G>A
1798G>T
1801A>G
1803C>G
1804C>G
1804C>T
1809C>G
1807A>T
1807A>G
1808G>T
1808G>C
1810T>C
1812G>C
1811G>A
1812G>A
1814A>G
E576*
S577F
S577P
S577Y
V578A
D579A
D579N
D579G
D579H
D579V
Q580*
G582A
G582R
G582E
G582V
N583S
Q584R
Q584H
Q584K
I585R
I585T
M586K
M586V
S587*
D588N
D588E
D588G
D588H
D588Y
D588V
I593N
L594Q
L594P
S596P
D599H
E600D
E600Q
E600K
E600*
N601D
N601K
R602G
R602*
S603R
S603C
S603G
S603I
S603T
W604R
W604C
W604*
W604*
Y605C
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Diamond (1992) Hum Mutat 1:248
McGinniss (1993) Genomics 15:392
Guillet (2006) Hum Mutat 27:676
Miller (2012) Haemophilia 18:375
Liu (1998) Br J Haematol 103:1051
Timur (2001) Haemophilia 7:475
Miller (2012) Haemophilia 18:375
Debeljak (2012) Haemophilia 18:e420
Cutler (2002) Hum Mutat 19:274
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Bogdanova (2007) Hum Mutat 28:54
Halldén (2012) J Thromb Haemost 10:2503
Guillet (2006) Hum Mutat 27:676
Nair (2014) PLoS One 9:e97337
Liu (2002) Thromb Haemost 87:273
Waseem (1999) Thromb Haemost 81:900
Cutler (2002) Hum Mutat 19:274
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Goodeve (2000) Thromb Haemost 83:844
Tuddenham (1994) Nucleic Acids Res 22:3511
Rosset (2013) Haemophilia 19:773
Ivaskevicius (2001) Br J Haematol 112:1062
Leuer (2001) Am J Hum Genet 69:75
Rydz (2013) Am J Hematol 88:1030
Rydz (2013) Am J Hematol 88:1030
Waseem (1999) Thromb Haemost 81:900
Debeljak (2012) Haemophilia 18:e420
Habart (2003) J Thromb Haemost 1:773
Williams (2012) Pathology 44:577
Ravanbod (2009) J Thromb Haemost 7S2:1117
Liu (2002) Thromb Haemost 87:273
Rossetti (2013) Haemophilia 19:511
Tuddenham (1994) Nucleic Acids Res 22:3511
Markoff (2009) Haemophilia 15:932
Santacroce (2008) J Hum Genet 53:275
Miller (2012) Haemophilia 18:375
Ravanbod (2009) J Thromb Haemost 7S2:1117
Waseem (1999) Thromb Haemost 81:900
Waseem (1999) Thromb Haemost 81:900
Waseem (1999) Thromb Haemost 81:900
Waseem (1999) Thromb Haemost 81:900
Pattinson (1990) Blood 76:2242
Liu (1998) Br J Haematol 103:1051
Miller (2012) Haemophilia 18:375
Green (2008) Br J Haematol 143:115
Tuddenham (1994) Nucleic Acids Res 22:3511
Green (2008) Br J Haematol 143:115
Santacroce (2008) J Hum Genet 53:275
Lin (1993) Genomics 18:496
Santacroce (2008) J Hum Genet 53:275
Fidanci (2008) Blood Coagul Fibrinolysis 19:383
Santacroce (2008) J Hum Genet 53:275
PubMed 1301932
PubMed 8449505
PubMed 16786531
PubMed 22103590
PubMed 9886318
PubMed 11554935
PubMed 22103590
PubMed 22958177
PubMed 11857744
PubMed 23913812
PubMed 18217193
PubMed 16972227
PubMed 23020595
PubMed 16786531
PubMed 24845853
PubMed 11858487
PubMed 10404764
PubMed 11857744
PubMed 1924291
PubMed 10896236
PubMed 7937051
PubMed 23711237
PubMed 11298607
PubMed 11410838
PubMed 23913812
PubMed 23913812
PubMed 10404764
PubMed 22958177
PubMed 12871415
PubMed 22935980
PubMed: No PubMed ID
PubMed 11858487
PubMed 23534532
PubMed 7937051
PubMed 19473423
PubMed 18217193
PubMed 22103590
PubMed: No PubMed ID
PubMed 10404764
PubMed 10404764
PubMed 10404764
PubMed 10404764
PubMed 1979502
PubMed 9886318
PubMed 22103590
PubMed 18691168
PubMed 7937051
PubMed 18691168
PubMed 18217193
PubMed 8307558
PubMed 18217193
PubMed 18600086
PubMed 18217193
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM990551
CM930222
CM055218
CM020118
CM121365
CM0911115
CM962542
CM910133
CM095522
CM123902
CM119437
CM980691
CM102435
CM1314162
CM082639
CM094290
CM081608
CM980692
CM0911151
CM940402
CM123903
CM980693
CM0911139
CM080269
CM020119
CM123904
CM950402
CM081245
CM000381
CM080302
CM0910946
HM090058
CM970474
CM062681
CM055236
CM083690
CM062696
CM980694
CM0910947
CM022348
CM070115
CM103769
CM0910295
CM020420
CM1314163
CM930223
CM930224
CM083676
CM055183
CM960549
CM080282
CM080284
CM098263
TAC‐CAC
TAC‐TCC
TAC‐TAA
AAT‐ATT
AAT‐AAA
AAT‐TAT
CAA‐TAA
CGC‐TGC
CGC‐CCC
AAT‐AGT
GTG‐ATG
CAG‐TAG
GAT‐GTT
TTC‐TGC
CAA‐TAA
AAC‐GAC
AAC‐ATC
AAC‐AAA
AAC‐AAG
AAC‐AGC
ATG‐AGG
ATG‐ATT
ATG‐ACG
ATG‐GTG
AGC‐AAC
ATC‐AGC
AAT‐GAT
AAT‐ATT
AAT‐AGT
GGC‐GAC
GGC‐AGC
GGC‐GTC
TAT‐TGT
TAT‐TAA
GTT‐TTT
TTT‐TCT
TTG‐TCG
TTG‐GTG
CAG‐CCG
CAG‐TAG
TGT‐CGT
TGT‐GGT
TGT‐TCT
TTG‐TTC
CAT‐CCT
GTG‐GCG
GTG‐ATG
TAC‐TGC
TAC‐CAC
TAC‐TAG
TGG‐CGG
TGG‐GGG
TGG‐TAG
Tyr605His
Tyr605Ser
Tyr605Term
Asn609Ile
Asn609Lys
Asn609Tyr
Gln611Term
Arg612Cys
Arg612Pro
Asn616Ser
Val620Met
Gln621Term
Asp624Val
Phe627Cys
Gln628Term
Asn631Asp
Asn631Ile
Asn631Lys
Asn631Lys
Asn631Ser
Met633Arg
Met633Ile
Met633Thr
Met633Val
Ser635Asn
Ile636Ser
Asn637Asp
Asn637Ile
Asn637Ser
Gly638Asp
Gly638Ser
Gly638Val
Tyr639Cys
Tyr639Term
Val640Phe
Phe641Ser
Leu644Ser
Leu644Val
Gln645Pro
Gln645Term
Cys649Arg
Cys649Gly
Cys649Ser
Leu650Phe
His651Pro
Val653Ala
Val653Met
Tyr655Cys
Tyr655His
Tyr655Term
Trp656Arg
Trp656Gly
Trp656Term
1813T>C
1814A>C
1815C>A
1826A>T
1827T>A
1825A>T
1831C>T
1834C>T
1835G>C
1847A>G
1858G>A
1861C>T
1871A>T
1880T>G
1882C>T
1891A>G
1892A>T
1893C>A
1893C>G
1892A>G
1898T>G
1899G>T
1898T>C
1897A>G
1904G>A
1907T>G
1909A>G
1910A>T
1910A>G
1913G>A
1912G>A
1913G>T
1916A>G
1917T>A
1918G>T
1922T>C
1931T>C
1930T>G
1934A>C
1933C>T
1945T>C
1945T>G
1946G>C
1950G>C
1952A>C
1958T>C
1957G>A
1964A>G
1963T>C
1965C>G
1966T>C
1966T>G
1967G>A
Y605H
Y605S
Y605*
N609I
N609K
N609Y
Q611*
R612C
R612P
N616S
V620M
Q621*
D624V
F627C
Q628*
N631D
N631I
N631K
N631K
N631S
M633R
M633I
M633T
M633V
S635N
I636S
N637D
N637I
N637S
G638D
G638S
G638V
Y639C
Y639*
V640F
F641S
L644S
L644V
Q645P
Q645*
C649R
C649G
C649S
L650F
H651P
V653A
V653M
Y655C
Y655H
Y655*
W656R
W656G
W656*
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Waseem (1999) Thromb Haemost 81:900
Lin (1993) Genomics 18:496
Rossetti (2013) Haemophilia 19:511
Liu (2002) Thromb Haemost 87:273
Dai (2012) Haemophilia 18:235
Ravanbod (2009) J Thromb Haemost 7S2:1117
Jayandharan (2005) Haemophilia 11:481
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Owaidah (2009) Blood Coagul Fibrinolysis 20:415
Miller (2012) Haemophilia 18:375
Silva Pinto (2012) Haemophilia 18:129
Strmecki (1998) Hum Hered 48:119
Chen (2010) Haemophilia 16:538
Rydz (2013) Am J Hematol 88:1030
Ma (2008) Haemophilia 14:787
Sirocova (2009) Haemophilia 15:942
Abu‐Amero (2008) Haemophilia 14:484
Maugard (1998) Hum Mutat 11:18
Ravanbod (2009) J Thromb Haemost 7S2:1117
Tuddenham (1994) Nucleic Acids Res 22:3511
Miller (2012) Haemophilia 18:375
Liu (1998) Br J Haematol 103:1051
Ravanbod (2009) J Thromb Haemost 7S2:1117
Santacroce (2008) J Hum Genet 53:275
Liu (2002) Thromb Haemost 87:273
Miller (2012) Haemophilia 18:375
Arruda (1995) Blood 86:3015
Vencesla (2008) Blood 111:3468
Roelse (2000) Br J Haematol 108:241
Santacroce (2008) J Hum Genet 53:275
Markoff (2009) Haemophilia 15:932
Morado (2010) Hum Genet 127:476
Tavassoli (1997) Hum Genet 100:508
Guillet (2006) Hum Mutat 27:676
Nesbitt (2005) F8 LSDB entry Unpublished:.
Green (2008) Br J Haematol 143:115
Guillet (2006) Hum Mutat 27:676
Freson (1998) Hum Mutat 11:470
Markoff (2009) Haemophilia 15:932
Citron (2002) Hum Mutat 20:267
Bogdanova (2007) Hum Mutat 28:54
Xue (2010) Eur J Haematol 85:264
Abdul‐Ghafar (2009) Haemophilia 16:551
Cutler (2002) Hum Mutat 19:274
Rydz (2013) Am J Hematol 88:1030
McGinniss (1993) Genomics 15:392
McGinniss (1993) Genomics 15:392
Green (2008) Br J Haematol 143:115
Ahmed (2005) Haematologica 90:283
Becker (1996) Am J Hum Genet 58:657
Santacroce (2008) J Hum Genet 53:275
Santacroce (2008) J Hum Genet 53:275
Jayandharan (2009) Haemophilia 15:1228
PubMed 10404764
PubMed 8307558
PubMed 23534532
PubMed 11858487
PubMed 21910785
PubMed: No PubMed ID
PubMed 16128892
PubMed 1908096
PubMed 19448530
PubMed 22103590
PubMed 21645180
PubMed 9526172
PubMed 20236351
PubMed 23913812
PubMed 18371163
PubMed 19473408
PubMed 18371166
PubMed 9450898
PubMed: No PubMed ID
PubMed 7937051
PubMed 22103590
PubMed 9886318
PubMed: No PubMed ID
PubMed 18217193
PubMed 11858487
PubMed 22103590
PubMed 7579394
PubMed 18184865
PubMed 10691849
PubMed 18217193
PubMed 19473423
PubMed 21488286
PubMed 9341862
PubMed 16786531
Source: LSDB
PubMed 18691168
PubMed 16786531
PubMed 9603440
PubMed 19473423
PubMed 12325022
PubMed 16972227
PubMed 20528906
PubMed 20028422
PubMed 11857744
PubMed 23913812
PubMed 8449505
PubMed 8449505
PubMed 18691168
PubMed 15710596
PubMed 8644728
PubMed 18217193
PubMed 18217193
PubMed 19686262
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM0910300
CM960550
CM123982
CM0910948
CM910134
CM080263
CM053872
CM003813
CM131014
CM129741
CM138664
CM083687
CM0910969
CM129824
CM0911140
CM062669
CM081611
CM070113
CM950403
CM080291
CM061738
CM083657
CM057436
CM020421
CM119438
CM1314164
CM983914
CM980695
CM010854
CM129825
CM129826
CM970475
CM092067
CM108713
CM083647
CM010855
CM0910949
CM080272
CM102436
CM123905
CM080322
CM080300
CM062659
CM083648
CM145563
CM062676
CM073048
CM145901
CM010856
CM1314165
CM105564
CM0910970
CM083652
TGG‐TGA
CTA‐CCA
ATT‐AAT
GGA‐GCA
GCA‐GTA
CAG‐CGG
CAG‐CAC
CAG‐CCG
CAG‐TAG
TCT‐TTT
TCT‐TAT
GTC‐CTC
TTC‐TTG
TTC‐TCC
GGA‐GCA
GGA‐GAA
GGA‐TGA
ACC‐TCC
TTC‐CTC
TTC‐GTC
AAA‐TAA
CAC‐CAA
ATG‐ATA
ATG‐ATC
GTC‐GCC
GTC‐GGC
GTC‐TTC
TAT‐AAT
TAT‐TGT
TAT‐CAT
GAC‐GGC
ACA‐AGA
CTC‐TTC
CTC‐CCC
ACC‐AGC
CTA‐CGA
CCA‐CTA
CCA‐TCA
TCA‐TTA
TCA‐CCA
TCA‐TGA
GGA‐GAA
GAA‐GGA
ACT‐AAT
ACT‐ATT
GTC‐GCC
GTC‐GAC
GTC‐CTC
TTC‐CTC
TTC‐TCC
ATG‐ATA
ATG‐TTG
ATG‐AAG
Trp656Term
Leu659Pro
Ile661Asn
Gly662Ala
Ala663Val
Gln664Arg
Gln664His
Gln664Pro
Gln664Term
Ser669Phe
Ser669Tyr
Val670Leu
Phe671Leu
Phe672Ser
Gly674Ala
Gly674Glu
Gly674Term
Thr676Ser
Phe677Leu
Phe677Val
Lys678Term
His679Gln
Met681Ile
Met681Ile
Val682Ala
Val682Gly
Val682Phe
Tyr683Asn
Tyr683Cys
Tyr683His
Asp685Gly
Thr686Arg
Leu687Phe
Leu687Pro
Thr688Ser
Leu689Arg
Pro691Leu
Pro691Ser
Ser693Leu
Ser693Pro
Ser693Term
Gly694Glu
Glu695Gly
Thr696Asn
Thr696Ile
Val697Ala
Val697Asp
Val697Leu
Phe698Leu
Phe698Ser
Met699Ile
Met699Leu
Met699Lys
1968G>A
1976T>C
1982T>A
1985G>C
1988C>T
1991A>G
1992G>C
1991A>C
1990C>T
2006C>T
2006C>A
2008G>C
2013C>G
2015T>C
2021G>C
2021G>A
2020G>T
2026A>T
2029T>C
2029T>G
2032A>T
2037C>A
2043G>A
2043G>C
2045T>C
2045T>G
2044G>T
2047T>A
2048A>G
2047T>C
2054A>G
2057C>G
2059C>T
2060T>C
2063C>G
2066T>G
2072C>T
2071C>T
2078C>T
2077T>C
2078C>G
2081G>A
2084A>G
2087C>A
2087C>T
2090T>C
2090T>A
2089G>C
2092T>C
2093T>C
2097G>A
2095A>T
2096T>A
W656*
L659P
I661N
G662A
A663V
Q664R
Q664H
Q664P
Q664*
S669F
S669Y
V670L
F671L
F672S
G674A
G674E
G674*
T676S
F677L
F677V
K678*
H679Q
M681I
M681I
V682A
V682G
V682F
Y683N
Y683C
Y683H
D685G
T686R
L687F
L687P
T688S
L689R
P691L
P691S
S693L
S693P
S693*
G694E
E695G
T696N
T696I
V697A
V697D
V697L
F698L
F698S
M699I
M699L
M699K
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Abdul‐Ghafar (2009) Haemophilia 16:551
Becker (1996) Am J Hum Genet 58:657
Lannoy (2012) Haemophilia 18:e331
Markoff (2009) Haemophilia 15:932
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Santacroce (2008) J Hum Genet 53:275
Boekhorst (2005) Br J Haematol 131:109
Goodeve (2000) Thromb Haemost 83:844
Kapsimali (2013) Haemophilia 19S2:22
Kim (2012) Haemophilia 18:1008
Rosset (2013) Haemophilia 19:773
Green (2008) Br J Haematol 143:115
Markoff (2009) Haemophilia 15:932
Debeljak (2012) Haemophilia 18:e420
Ravanbod (2009) J Thromb Haemost 7S2:1117
Guillet (2006) Hum Mutat 27:676
Abu‐Amero (2008) Haemophilia 14:484
Bogdanova (2007) Hum Mutat 28:54
Schwaab (1995) Br J Haematol 91:458
Santacroce (2008) J Hum Genet 53:275
Vinciguerra (2006) Thromb Haemost 95:593
Green (2008) Br J Haematol 143:115
Fernandez‐Lopez (2005) Haematologica 90:707
Cutler (2002) Hum Mutat 19:274
Silva Pinto (2012) Haemophilia 18:129
Rydz (2013) Am J Hematol 88:1030
Hay (1998) Thromb Haemost 79:762
Liu (1998) Br J Haematol 103:1051
Timur (2001) Haemophilia 7:475
Debeljak (2012) Haemophilia 18:e420
Debeljak (2012) Haemophilia 18:e420
Morichika (1997) Br J Haematol 98:901
Viel (2009) N Engl J Med 360:1618
Reitter (2010) Thromb Haemost 104:78
Green (2008) Br J Haematol 143:115
Chuansumrit (2001) F8 LSDB entry Unpublished:
Markoff (2009) Haemophilia 15:932
Santacroce (2008) J Hum Genet 53:275
Chen (2010) Haemophilia 16:538
Miller (2012) Haemophilia 18:375
Santacroce (2008) J Hum Genet 53:275
Santacroce (2008) J Hum Genet 53:275
Guillet (2006) Hum Mutat 27:676
Green (2008) Br J Haematol 143:115
Nair (2014) PLoS One 9:e97337
Guillet (2006) Hum Mutat 27:676
Repesse (2007) J Thromb Haemost 5:1469
Pavlova (2014) Thromb Haemost 111:851
Timur (2001) Haemophilia 7:475
Rydz (2013) Am J Hematol 88:1030
Nair (2010) Clin Chim Acta 411:2004
Markoff (2009) Haemophilia 15:932
Green (2008) Br J Haematol 143:115
PubMed 20028422
PubMed 8644728
PubMed 21883705
PubMed 19473423
PubMed 1924291
PubMed 18217193
PubMed 16173970
PubMed 10896236
PubMed: No PubMed ID
PubMed 22741565
PubMed 23711237
PubMed 18691168
PubMed 19473423
PubMed 22958177
PubMed: No PubMed ID
PubMed 16786531
PubMed 18371166
PubMed 16972227
PubMed 8547094
PubMed 18217193
PubMed 16601827
PubMed 18691168
PubMed 15921397
PubMed 11857744
PubMed 21645180
PubMed 23913812
PubMed 9569189
PubMed 9886318
PubMed 11554935
PubMed 22958177
PubMed 22958177
PubMed 9326186
PubMed 19369668
PubMed 20431853
PubMed 18691168
Source: LSDB
PubMed 19473423
PubMed 18217193
PubMed 20236351
PubMed 22103590
PubMed 18217193
PubMed 18217193
PubMed 16786531
PubMed 18691168
PubMed 24845853
PubMed 16786531
PubMed 17445092
PubMed 24452774
PubMed 11554935
PubMed 23913812
PubMed 20800587
PubMed 19473423
PubMed 18691168
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM020120
CM980696
CM122064
CM010857
CM020121
CM080259
CM1314166
CM025244
CM1314167
CM0910950
CM062652
CM057069
CM129827
CM055181
CM950404
CM098103
CM136355
CM055228
CM061759
CM1212719
CM010858
CM083672
CM070110
CM055226
CM071729
CM001157
CM083681
CM067379
CM960551
CM920257
CM092068
CM062672
CM123906
CM950405
CM0911110
CM034805
CM020122
CM980697
BM1475645
CM1314168
CM080270
CM055206
CM123907
CM910135
CM083689
CM020422
CM980698
CM123908
CM1312761
CM145559
CM1212721
CM057450
CM973029
ATG‐ACG
ATG‐GTG
TCG‐TTG
TCG‐TAG
ATG‐ATA
ATG‐ACG
ATG‐GTG
AAC‐GAC
AAC‐AAG
AAC‐AGC
CCA‐TCA
GGT‐CGT
GGT‐GAT
GGT‐AGT
GGT‐GTT
TGG‐CGG
TGG‐TTG
TGG‐TAG
TGG‐TGA
GGG‐GAG
GGG‐TGG
GGG‐GTG
TGC‐CGC
TGC‐TTC
TGC‐TAC
AAC‐ATC
TCA‐TTA
CGG‐CAG
CGG‐CTG
CGG‐TGG
AGA‐ACA
GGC‐GCC
GGC‐CGC
GGC‐GAC
GGC‐TGC
GGC‐AGC
ATG‐ATC
ATG‐CTG
ATG‐TTG
ATG‐ACG
ATG‐GTG
GCC‐GAC
GCC‐TCC
GCC‐ACC
TTA‐TTT
CTG‐CAG
GTT‐TTT
TGT‐GGT
TGT‐TAT
TAT‐TGT
TAT‐TAA
TAC‐TGC
TAC‐TAG
Met699Thr
Met699Val
Ser700Leu
Ser700Term
Met701Ile
Met701Thr
Met701Val
Asn703Asp
Asn703Lys
Asn703Ser
Pro704Ser
Gly705Arg
Gly705Asp
Gly705Ser
Gly705Val
Trp707Arg
Trp707Leu
Trp707Term
Trp707Term
Gly710Glu
Gly710Trp
Gly710Val
Cys711Arg
Cys711Phe
Cys711Tyr
Asn713Ile
Ser714Leu
Arg717Gln
Arg717Leu
Arg717Trp
Arg719Thr
Gly720Ala
Gly720Arg
Gly720Asp
Gly720Cys
Gly720Ser
Met721Ile
Met721Leu
Met721Leu
Met721Thr
Met721Val
Ala723Asp
Ala723Ser
Ala723Thr
Leu724Phe
Leu725Gln
Val727Phe
Cys730Gly
Cys730Tyr
Tyr737Cys
Tyr737Term
Tyr738Cys
Tyr738Term
2096T>C
2095A>G
2099C>T
2099C>A
2103G>A
2102T>C
2101A>G
2107A>G
2109C>G
2108A>G
2110C>T
2113G>C
2114G>A
2113G>A
2114G>T
2119T>C
2120G>T
2120G>A
2121G>A
2129G>A
2128G>T
2129G>T
2131T>C
2132G>T
2132G>A
2138A>T
2141C>T
2150G>A
2150G>T
2149C>T
2156G>C
2159G>C
2158G>C
2159G>A
2158G>T
2158G>A
2163G>C
2161A>C
2161A>T
2162T>C
2161A>G
2168C>A
2167G>T
2167G>A
2172A>T
2174T>A
2179G>T
2188T>G
2189G>A
2210A>G
2211T>A
2213A>G
2214C>G
M699T
M699V
S700L
S700*
M701I
M701T
M701V
N703D
N703K
N703S
P704S
G705R
G705D
G705S
G705V
W707R
W707L
W707*
W707*
G710E
G710W
G710V
C711R
C711F
C711Y
N713I
S714L
R717Q
R717L
R717W
R719T
G720A
G720R
G720D
G720C
G720S
M721I
M721L
M721L
M721T
M721V
A723D
A723S
A723T
L724F
L725Q
V727F
C730G
C730Y
Y737C
Y737*
Y738C
Y738*
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Liu (2002) Thromb Haemost 87:273
Freson (1998) Hum Mutat 11:470
Seary (2012) Haemophilia 18:50
Timur (2001) Haemophilia 7:475
Liu (2002) Thromb Haemost 87:273
Santacroce (2008) J Hum Genet 53:275
Rydz (2013) Am J Hematol 88:1030
Cutler (2002) F8 LSDB entry Unpublished:.
Rydz (2013) Am J Hematol 88:1030
Markoff (2009) Haemophilia 15:932
Berber (2006) Haemophilia 12:398
Astermark (2005) Haematologica 90:924
Debeljak (2012) Haemophilia 18:e420
Lillicrap (2005) F8 LSDB entry Unpublished:.
Pieneman (1995) Br J Haematol 90:442
Castaman (2009) J Thromb Haemost 7:1824
Inaba (2013) Int J Hematol 97:758
Lillicrap (2005) F8 LSDB entry Unpublished:.
Vinciguerra (2006) Thromb Haemost 95:593
Halldén (2012) J Thromb Haemost 10:2503
Timur (2001) Haemophilia 7:475
Green (2008) Br J Haematol 143:115
Bogdanova (2007) Hum Mutat 28:54
Lillicrap (2005) F8 LSDB entry Unpublished:.
Castaman (2007) Haemophilia 13:311
Schwaab (2000) Br J Haematol 109:523
Green (2008) Br J Haematol 143:115
David (2006) Haematologica 91:840
Rudzki (1996) Br J Haematol 94:400
Diamond (1992) Hum Mutat 1:248
Viel (2009) N Engl J Med 360:1618
Guillet (2006) Hum Mutat 27:676
Miller (2012) Haemophilia 18:375
Bidichandani (1995) Hum Genet 95:531
Ravanbod (2009) J Thromb Haemost 7S2:1117
Habart (2003) J Thromb Haemost 1:773
Liu (2002) Thromb Haemost 87:273
Liu (1998) Br J Haematol 103:1051
Pavlova (2014) Thromb Haemost 111:851
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Gallardo (2005) F8 LSDB entry Unpublished:.
Miller (2012) Haemophilia 18:375
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Green (2008) Br J Haematol 143:115
Cutler (2002) Hum Mutat 19:274
Freson (1998) Hum Mutat 11:470
Miller (2012) Haemophilia 18:375
Abdi (2013) Clin Appl Thromb Hemost epub:epub
Nair (2014) PLoS One 9:e97337
Halldén (2012) J Thromb Haemost 10:2503
Fernandez‐Lopez (2005) Haematologica 90:707
Liu (1997) Zhonghua Xue Ye Xue Za Zhi 18:464
PubMed 11858487
PubMed 9603440
PubMed 21592259
PubMed 11554935
PubMed 11858487
PubMed 18217193
PubMed 23913812
Source: LSDB
PubMed 23913812
PubMed 19473423
PubMed 16834740
PubMed 15996930
PubMed 22958177
Source: LSDB
PubMed 7794769
PubMed 19719828
PubMed 23625609
Source: LSDB
PubMed 16601827
PubMed 23020595
PubMed 11554935
PubMed 18691168
PubMed 16972227
Source: LSDB
PubMed 17498081
PubMed 10886198
PubMed 18691168
PubMed 16769589
PubMed 8759905
PubMed 1301932
PubMed 19369668
PubMed 16786531
PubMed 22103590
PubMed 7759074
PubMed: No PubMed ID
PubMed 12871415
PubMed 11858487
PubMed 9886318
PubMed 24452774
PubMed 23913812
PubMed 18217193
Source: LSDB
PubMed 22103590
PubMed 1908096
PubMed 18691168
PubMed 11857744
PubMed 9603440
PubMed 22103590
PubMed 24270469
PubMed 24845853
PubMed 23020595
PubMed 15921397
PubMed 15625837
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM950406
CM034806
CM980699
CM1314169
CM960552
CM011328
CM083669
CM070092
CM082648
CM020123
CM0911161
CM055235
CM082638
CM119434
CM127363
CM900090
CM011329
CM1212723
CM1313588
CM021586
CM983919
CM106049
CM0911144
CM960553
CM045146
CM022349
CM141479
CM061751
CM073050
CM1314191
CM108714
CM106050
CM022350
CM105562
CM960554
HM090013
CM021587
CM053263
CM111351
CM003814
CM061760
CM103775
CM083675
CM062651
CM067375
CM960555
CM123842
CM129744
CM080323
CM012942
CM123962
CM910136
CM015875
GAG‐AAG
GAG‐TAG
TAT‐TGT
TAC‐TGC
TAC‐TAA
TTG‐TAG
CTG‐GTG
ACT‐AGT
CAA‐TAA
CAA‐TAA
TGG‐TAG
TGG‐TGA
AGA‐GGA
CAA‐TAA
AAT‐AAC
CGA‐TGA
CAG‐TAG
CAT‐CGT
GAA‐TAA
TAT‐TAG
GAC‐GAA
CAG‐TAG
GTA‐CTA
TCA‐TGA
TTA‐TGA
GAG‐TAG
AAA‐TAA
TCA‐TAA
TCA‐TGA
TCA‐TAA
AAT‐GAT
TTA‐TGA
GGA‐TGA
CAA‐GAA
CCC‐CGC
GAT‐AAT
AAG‐TAG
TTA‐TGA
TCA‐TAA
TGG‐TAG
TGG‐TGA
TCA‐TAA
AAA‐TAA
CAT‐CAG
AAA‐TAA
GTT‐CTT
TTA‐TAA
AAA‐TAA
TCA‐TGA
TGG‐TAG
TTA‐TAA
GAG‐AAG
AAA‐TAA
Glu739Lys
Glu739Term
Tyr742Cys
Tyr748Cys
Tyr748Term
Leu749Term
Leu750Val
Thr770Ser
Gln772Term
Gln774Term
Trp791Term
Trp791Term
Arg795Gly
Gln802Term
Asn803Asn
Arg814Term
Gln815Term
His820Arg
Glu829Term
Tyr832Term
Asp845Glu
Gln859Term
Val867Leu
Ser872Term
Leu878Term
Glu880Term
Lys896Term
Ser901Term
Ser901Term
Ser906Term
Asn912Asp
Leu923Term
Gly924Term
Gln935Glu
Pro947Arg
Asp963Asn
Lys965Term
Leu971Term
Ser978Term
Trp979Term
Trp979Term
Ser985Term
Lys993Term
His998Gln
Lys1011Term
Val1012Leu
Leu1017Term
Lys1021Term
Ser1038Term
Trp1048Term
Leu1052Term
Glu1057Lys
Lys1059Term
2215G>A
2215G>T
2225A>G
2243A>G
2244C>A
2246T>A
2248C>G
2309C>G
2314C>T
2320C>T
2372G>A
2373G>A
2383A>G
2404C>T
2409T>C
2440C>T
2443C>T
2459A>G
2485G>T
2496T>G
2535C>A
2575C>T
2599G>C
2615C>G
2633T>G
2638G>T
2686A>T
2702C>A
2702C>G
2717C>A
2734A>G
2768T>G
2770G>T
2803C>G
2840C>G
2887G>A
2893A>T
2912T>G
2933C>A
2936G>A
2937G>A
2954C>A
2977A>T
2994T>G
3031A>T
3034G>C
3050T>A
3061A>T
3113C>G
3143G>A
3155T>A
3169G>A
3175A>T
E739K
E739*
Y742C
Y748C
Y748*
L749*
L750V
T770S
Q772*
Q774*
W791*
W791*
R795G
Q802*
N803N
R814*
Q815*
H820R
E829*
Y832*
D845E
Q859*
V867L
S872*
L878*
E880*
K896*
S901*
S901*
S906*
N912D
L923*
G924*
Q935E
P947R
D963N
K965*
L971*
S978*
W979*
W979*
S985*
K993*
H998Q
K1011*
V1012L
L1017*
K1021*
S1038*
W1048*
L1052*
E1057K
K1059*
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Schwaab (1995) Br J Haematol 91:458
Habart (2003) J Thromb Haemost 1:773
Liu (1998) Br J Haematol 103:1051
Rydz (2013) Am J Hematol 88:1030
Chan (1996) Br J Haematol 93:451
Ivaskevicius (2001) Br J Haematol 112:1062
Green (2008) Br J Haematol 143:115
Bogdanova (2007) Hum Mutat 28:54
Lin (2008) BMC Med Genet 9:53
Liu (2002) Thromb Haemost 87:273
Ravanbod (2009) J Thromb Haemost 7S2:1117
Riccardi (2010) Haemophilia 16:791
Ma (2008) Haemophilia 14:787
Silva Pinto (2012) Haemophilia 18:129
Elmahmoudi (2012) Diagn Pathol 7:93
Pattinson (1990) Blood 76:2242
Ivaskevicius (2001) Br J Haematol 112:1062
Halldén (2012) J Thromb Haemost 10:2503
Gorziza (2013) Blood Coagul Fibrinolysis 24:164
Klopp (2002) Thromb Haemost 88:357
Liu (1998) Zhonghua Xue Ye Xue Za Zhi 19:458
Wang (2010) Haemophilia 16:632
Ravanbod (2009) J Thromb Haemost 7S2:1117
Becker (1996) Am J Hum Genet 58:657
Acquila (2004) Haemophilia 10:744
Citron (2002) Hum Mutat 20:267
Khanum (2014) Haemophilia 20:287
Vinciguerra (2006) Thromb Haemost 95:593
Repesse (2007) J Thromb Haemost 5:1469
Rydz (2013) Am J Hematol 88:1030
Reitter (2010) Thromb Haemost 104:78
Wang (2010) Haemophilia 16:632
Citron (2002) Hum Mutat 20:267
Nair (2010) Clin Chim Acta 411:2004
Chan (1996) Br J Haematol 93:451
Niceta (2010) Hum Genet 127:115
Klopp (2002) Thromb Haemost 88:357
Bogdanova (2005) Hum Mutat 26:249
Gouw (2011) Haemophilia 17:275
Goodeve (2000) Thromb Haemost 83:844
Vinciguerra (2006) Thromb Haemost 95:593
Xue (2010) Eur J Haematol 85:264
Green (2008) Br J Haematol 143:115
Guillet (2006) Hum Mutat 27:676
David (2006) Haematologica 91:840
Becker (1996) Am J Hum Genet 58:657
Miller (2012) Haemophilia 18:375
Kim (2012) Haemophilia 18:1008
Santacroce (2008) J Hum Genet 53:275
Leuer (2001) Am J Hum Genet 69:75
Lannoy (2012) Haemophilia 18:e331
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Vidal (2001) Thromb Haemost 85:580
PubMed 8547094
PubMed 12871415
PubMed 9886318
PubMed 23913812
PubMed 8639447
PubMed 11298607
PubMed 18691168
PubMed 16972227
PubMed 18565236
PubMed 11858487
PubMed: No PubMed ID
PubMed 20331761
PubMed 18371163
PubMed 21645180
PubMed 22883072
PubMed 1979502
PubMed 11298607
PubMed 23020595
PubMed 23249616
PubMed 12195713
PubMed 11189482
PubMed 20331753
PubMed: No PubMed ID
PubMed 8644728
PubMed 15569173
PubMed 12325022
PubMed 24118398
PubMed 16601827
PubMed 17445092
PubMed 23913812
PubMed 20431853
PubMed 20331753
PubMed 12325022
PubMed 20800587
PubMed 8639447
Source: Online submission
PubMed 12195713
PubMed 16086318
PubMed 21070499
PubMed 10896236
PubMed 16601827
PubMed 20528906
PubMed 18691168
PubMed 16786531
PubMed 16769589
PubMed 8644728
PubMed 22103590
PubMed 22741565
PubMed 18217193
PubMed 11410838
PubMed 21883705
PubMed 1924291
PubMed 11341489
www.ngpd.it
Elenco mutazioni NGPD
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
CM034807
CM108715
CM123909
CM0911162
CM140628
CM141475
CM011330
CM055166
CM082632
CM071724
CM083641
CM061752
CM012943
CM141468
CM020423
CM0911136
CM103776
CM990552
CM061744
CM123910
CM022351
CM055167
CM1212727
CM123843
CM103777
CM088370
CM111352
CM123911
CM123912
CM020424
CAT‐TAT
TCA‐TGA
ACT‐ATT
TCA‐TGA
ATG‐ATA
GAA‐TAA
CAG‐TAG
AAA‐TAA
GAG‐TAG
CAA‐TAA
AAT‐TAT
TCA‐TAA
TGG‐TGA
CAA‐TAA
CAA‐TAA
CCA‐GCA
CAG‐TAG
GAG‐TAG
AAA‐TAA
CTC‐GTC
GAA‐TAA
AAA‐TAA
CAG‐TAG
GAA‐TAA
TTA‐TAA
CAG‐TAG
CAT‐CTT
GGC‐GCC
AAG‐AGG
GAA‐TAA
His1066Tyr
Ser1084Term
Thr1088Ile
Ser1090Term
Met1093Ile
Glu1094Term
Gln1098Term
Lys1100Term
Glu1101Term
Gln1109Term
Asn1110Tyr
Ser1124Term
Trp1127Term
Gln1129Term
Gln1141Term
Pro1153Ala
Gln1160Term
Glu1165Term
Lys1166Term
Leu1182Val
Glu1203Term
Lys1211Term
Gln1214Term
Glu1216Term
Leu1223Term
Gln1232Term
His1234Leu
Gly1238Ala
Lys1244Arg
Glu1256Term
3196C>T
3251C>G
3263C>T
3269C>G
3279G>A
3280G>T
3292C>T
3298A>T
3301G>T
3325C>T
3328A>T
3371C>A
3381G>A
3385C>T
3421C>T
3457C>G
3478C>T
3493G>T
3496A>T
3544C>G
3607G>T
3631A>T
3640C>T
3646G>T
3668T>A
3694C>T
3701A>T
3713G>C
3731A>G
3766G>T
H1066Y
S1084*
T1088I
S1090*
M1093I
E1094*
Q1098*
K1100*
E1101*
Q1109*
N1110Y
S1124*
W1127*
Q1129*
Q1141*
P1153A
Q1160*
E1165*
K1166*
L1182V
E1203*
K1211*
Q1214*
E1216*
L1223*
Q1232*
H1234L
G1238A
K1244R
E1256*
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
CM960556
CM123844
CM960557
CM100252
CM053252
CM080246
CM055168
CM062682
CM111353
CM010860
CM141472
CM066802
CM094292
CM053256
CM083667
CM062655
CM022352
CM053243
CM103778
CM080320
CM014186
CM082659
GAC‐GAG
CAA‐TAA
TCA‐TGA
AGA‐AAA
AAA‐TAA
AAA‐TAA
AAA‐TAA
CAA‐TAA
CAA‐TAA
GAG‐TAG
TAT‐TAA
ACA‐CCA
CAG‐TAG
CAG‐TAG
CAA‐TAA
CGT‐CAT
CAA‐AAA
CAA‐TAA
GAA‐TAA
TCA‐TAA
CAG‐TAG
TGG‐TAG
Asp1260Glu
Gln1268Term
Ser1276Term
Arg1279Lys
Lys1282Term
Lys1289Term
Lys1290Term
Gln1302Term
Gln1305Term
Glu1308Term
Tyr1310Term
Thr1314Pro
Gln1322Term
Gln1323Term
Gln1328Term
Arg1329His
Gln1336Lys
Gln1336Term
Glu1347Term
Ser1356Term
Gln1358Term
Trp1359Term
3780C>G
3802C>T
3827C>G
3836G>A
3844A>T
3865A>T
3868A>T
3904C>T
3913C>T
3922G>T
3930T>A
3940A>C
3964C>T
3967C>T
3982C>T
3986G>A
4006C>A
4006C>T
4039G>T
4067C>A
4072C>T
4076G>A
D1260E
Q1268*
S1276*
R1279K
K1282*
K1289*
K1290*
Q1302*
Q1305*
E1308*
Y1310*
T1314P
Q1322*
Q1323*
Q1328*
R1329H
Q1336K
Q1336*
E1347*
S1356*
Q1358*
W1359*
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Decreased factor VIII activity
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Habart (2003) J Thromb Haemost 1:773
Reitter (2010) Thromb Haemost 104:78
Miller (2012) Haemophilia 18:375
Ravanbod (2009) J Thromb Haemost 7S2:1117
Qiao (2014) Mol Med Rep 9:466
Khanum (2014) Haemophilia 20:287
Ivaskevicius (2001) Br J Haematol 112:1062
Casey (2005) F8 LSDB entry Unpublished:.
Djambas Khayat (2008) Haemophilia 14:709
Castaman (2007) Haemophilia 13:311
Green (2008) Br J Haematol 143:115
Vinciguerra (2006) Thromb Haemost 95:593
Leuer (2001) Am J Hum Genet 69:75
Khanum (2014) Haemophilia 20:287
Cutler (2002) Hum Mutat 19:274
Ravanbod (2009) J Thromb Haemost 7S2:1117
Xue (2010) Eur J Haematol 85:264
Waseem (1999) Thromb Haemost 81:900
Vinciguerra (2006) Thromb Haemost 95:593
Miller (2012) Haemophilia 18:375
Citron (2002) Hum Mutat 20:267
Lillicrap (2005) F8 LSDB entry Unpublished:.
Halldén (2012) J Thromb Haemost 10:2503
Miller (2012) Haemophilia 18:375
Xue (2010) Eur J Haematol 85:264
Casaña (2008) Haematologica 93:1091
Gouw (2011) Haemophilia 17:275
Miller (2012) Haemophilia 18:375
Miller (2012) Haemophilia 18:375
Cutler (2002) Hum Mutat 19:274
PubMed 12871415
PubMed 20431853
PubMed 22103590
PubMed: No PubMed ID
PubMed 24317041
PubMed 24118398
PubMed 11298607
Source: LSDB
PubMed 18479430
PubMed 17498081
PubMed 18691168
PubMed 16601827
PubMed 11410838
PubMed 24118398
PubMed 11857744
PubMed: No PubMed ID
PubMed 20528906
PubMed 10404764
PubMed 16601827
PubMed 22103590
PubMed 12325022
Source: LSDB
PubMed 23020595
PubMed 22103590
PubMed 20528906
PubMed 18403393
PubMed 21070499
PubMed 22103590
PubMed 22103590
PubMed 11857744
Scanavini (2005) Thromb Haemost 93:453
Miller (2012) Haemophilia 18:375
Becker (1996) Am J Hum Genet 58:657
Awidi (2010) Haemophilia 16:136
Bogdanova (2005) Hum Mutat 26:249
Santacroce (2008) J Hum Genet 53:275
Lillicrap (2005) F8 LSDB entry Unpublished:.
Guillet (2006) Hum Mutat 27:676
Casaña (2008) Haematologica 93:1091
Ljung (2001) F8 LSDB entry Unpublished:
Khanum (2014) Haemophilia 20:287
37:492
Sirocova (2009) Haemophilia 15:942
Bogdanova (2005) Hum Mutat 26:249
Green (2008) Br J Haematol 143:115
Guillet (2006) Hum Mutat 27:676
Citron (2002) Hum Mutat 20:267
Bogdanova (2005) Hum Mutat 26:249
Xue (2010) Eur J Haematol 85:264
Santacroce (2008) J Hum Genet 53:275
Theophilus (2001) Haemophilia 7:381
Lin (2008) BMC Med Genet 9:53
PubMed 15735794
PubMed 22103590
PubMed 8644728
PubMed 19817879
PubMed 16086318
PubMed 18217193
Source: LSDB
PubMed 16786531
PubMed 18403393
Source: LSDB
PubMed 24118398
PubMed 16761442
PubMed 19473408
PubMed 16086318
PubMed 18691168
PubMed 16786531
PubMed 12325022
PubMed 16086318
PubMed 20528906
PubMed 18217193
PubMed 11442643
PubMed 18565236
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM080338
CM141467
CM080262
CM080327
CM1212735
CM1212736
CM061753
CM136648
CM092069
CM121366
CM094293
CM123845
CM076177
CM931188
CM1314170
CM108716
CM022353
CM010861
CM083677
CM088371
CM1314125
CM080332
CM082634
CM103779
CM054676
CM062660
CM083650
CM054681
CM1314192
CM010862
CM010863
CM054674
CM111354
CM010864
CM012944
CM123847
CM054672
CM124276
CM082655
CM0911160
CM960558
CM111355
CM921007
CM055171
CM980700
CM145281
CM061757
CM990553
CM082649
CM1314193
CM053248
CM061745
CM082643
TGG‐TGA
ACC‐TCC
ACA‐GCA
CAG‐TAG
TCA‐TAA
CTT‐ATT
CAA‐TAA
TCA‐TAA
TCT‐CCT
CAA‐TAA
GAA‐TAA
TTA‐TAA
CAA‐TAA
AAT‐AAA
TTG‐TCG
GAG‐TAG
CAA‐TAA
CTG‐CCG
TAC‐TAA
TAC‐TAG
AAG‐TAG
GAG‐TAG
GTT‐ATT
GAA‐TAA
CAG‐TAG
AAG‐TAG
AGC‐ACC
TGG‐TGA
AAG‐TAG
TGG‐TAG
TGG‐TGA
TAT‐TAA
GAA‐TAA
GAG‐GAT
TGG‐TAG
TGG‐TGA
AAA‐TAA
GAG‐TAG
TCA‐TAA
GAA‐TAA
GCT‐TCT
AAG‐TAG
GAG‐TAG
CAA‐TAA
GAA‐TAA
GAA‐GGA
TGG‐TAG
TGG‐TGA
CAA‐TAA
CAA‐TAA
CCA‐CTA
AAA‐TAA
CGT‐CAT
Trp1359Term
Thr1367Ser
Thr1372Ala
Gln1386Term
Ser1390Term
Leu1393Ile
Gln1401Term
Ser1414Term
Ser1445Pro
Gln1448Term
Glu1449Term
Leu1454Term
Gln1455Term
Asn1460Lys
Leu1469Ser
Glu1470Term
Gln1475Term
Leu1481Pro
Tyr1491Term
Tyr1491Term
Lys1492Term
Glu1495Term
Val1511Ile
Glu1512Term
Gln1521Term
Lys1522Term
Ser1530Thr
Trp1554Term
Lys1579Term
Trp1586Term
Trp1586Term
Tyr1590Term
Glu1597Term
Glu1598Asp
Trp1599Term
Trp1599Term
Lys1600Term
Glu1603Term
Ser1605Term
Glu1607Term
Ala1610Ser
Lys1614Term
Glu1634Term
Gln1636Term
Glu1640Term
Glu1642Gly
Trp1645Term
Trp1645Term
Gln1648Term
Gln1657Term
Pro1660Leu
Lys1663Term
Arg1671His
4077G>A
4099A>T
4114A>G
4156C>T
4169C>A
4177C>A
4201C>T
4241C>A
4333T>C
4342C>T
4345G>T
4361T>A
4363C>T
4380T>A
4406T>C
4408G>T
4423C>T
4442T>C
4473C>A
4473C>G
4474A>T
4483G>T
4531G>A
4534G>T
4561C>T
4564A>T
4589G>C
4662G>A
4735A>T
4757G>A
4758G>A
4770T>A
4789G>T
4794G>T
4796G>A
4797G>A
4798A>T
4807G>T
4814C>A
4819G>T
4828G>T
4840A>T
4900G>T
4906C>T
4918G>T
4925A>G
4934G>A
4935G>A
4942C>T
4969C>T
4979C>T
4987A>T
5012G>A
W1359*
T1367S
T1372A
Q1386*
S1390*
L1393I
Q1401*
S1414*
S1445P
Q1448*
E1449*
L1454*
Q1455*
N1460K
L1469S
E1470*
Q1475*
L1481P
Y1491*
Y1491*
K1492*
E1495*
V1511I
E1512*
Q1521*
K1522*
S1530T
W1554*
K1579*
W1586*
W1586*
Y1590*
E1597*
E1598D
W1599*
W1599*
K1600*
E1603*
S1605*
E1607*
A1610S
K1614*
E1634*
Q1636*
E1640*
E1642G
W1645*
W1645*
Q1648*
Q1657*
P1660L
K1663*
R1671H
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Santacroce (2008) J Hum Genet 53:275
Khanum (2014) Haemophilia 20:287
Santacroce (2008) J Hum Genet 53:275
Santacroce (2008) J Hum Genet 53:275
Halldén (2012) J Thromb Haemost 10:2503
Halldén (2012) J Thromb Haemost 10:2503
Vinciguerra (2006) Thromb Haemost 95:593
Rossetti (2013) Haemophilia 19:511
Viel (2009) N Engl J Med 360:1618
Dai (2012) Haemophilia 18:235
Sirocova (2009) Haemophilia 15:942
Miller (2012) Haemophilia 18:375
Rossetti (2007) Haematologica 92:842
McGinniss (1993) Genomics 15:392
Rydz (2013) Am J Hematol 88:1030
Reitter (2010) Thromb Haemost 104:78
Citron (2002) Hum Mutat 20:267
No author given (2001) F8 LSDB entry Unpublished:
Green (2008) Br J Haematol 143:115
Casaña (2008) Haematologica 93:1091
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Lin (2008) BMC Med Genet 9:53
Xue (2010) Eur J Haematol 85:264
Jayandharan (2005) Haemophilia 11:481
Guillet (2006) Hum Mutat 27:676
Green (2008) Br J Haematol 143:115
Ahmed (2005) Haematologica 90:283
Rydz (2013) Am J Hematol 88:1030
Vidal (2001) Thromb Haemost 85:580
Tuddenham (2001) F8 LSDB entry Unpublished:
Jayandharan (2005) Haemophilia 11:481
Gouw (2011) Haemophilia 17:275
Chuansumrit (2001) F8 LSDB entry Unpublished:
Leuer (2001) Am J Hum Genet 69:75
Miller (2012) Haemophilia 18:375
Jayandharan (2005) Haemophilia 11:481
Ravanbod (2012) Haemophilia 18:e340
Lin (2008) BMC Med Genet 9:53
Ravanbod (2009) J Thromb Haemost 7S2:1117
Chan (1996) Br J Haematol 93:451
Gouw (2011) Haemophilia 17:275
Lavergne (1992) Nouv Rev Fr Hematol 34:85
Gallardo (2005) F8 LSDB entry Unpublished:.
Freson (1998) Hum Mutat 11:470
Onsori (2014) Iran Red Crescent Med J 16:e6727
Vinciguerra (2006) Thromb Haemost 95:593
Waseem (1999) Thromb Haemost 81:900
Lin (2008) BMC Med Genet 9:53
Rydz (2013) Am J Hematol 88:1030
Bogdanova (2005) Hum Mutat 26:249
Vinciguerra (2006) Thromb Haemost 95:593
Djambas Khayat (2008) Haemophilia 14:709
PubMed 18217193
PubMed 24118398
PubMed 18217193
PubMed 18217193
PubMed 23020595
PubMed 23020595
PubMed 16601827
PubMed 23534532
PubMed 19369668
PubMed 21910785
PubMed 19473408
PubMed 22103590
PubMed 17550859
PubMed 8449505
PubMed 23913812
PubMed 20431853
PubMed 12325022
Source: LSDB
PubMed 18691168
PubMed 18403393
PubMed 23913812
PubMed 18217193
PubMed 18565236
PubMed 20528906
PubMed 16128892
PubMed 16786531
PubMed 18691168
PubMed 15710596
PubMed 23913812
PubMed 11341489
Source: LSDB
PubMed 16128892
PubMed 21070499
Source: LSDB
PubMed 11410838
PubMed 22103590
PubMed 16128892
PubMed 22117735
PubMed 18565236
PubMed: No PubMed ID
PubMed 8639447
PubMed 21070499
PubMed 1523102
Source: LSDB
PubMed 9603440
PubMed 24719712
PubMed 16601827
PubMed 10404764
PubMed 18565236
PubMed 23913812
PubMed 16086318
PubMed 16601827
PubMed 18479430
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM098264
CM062670
CM080324
CM055221
CM102437
CM980701
CM900091
CM900092
CM054678
CM1212741
CM900093
CM0911150
CM880026
CM910137
CM062654
CM1314171
CM010865
CM138650
CM1314194
CM1314172
CM083646
CM021987
CM057443
CM920258
CM067378
CM900094
CM053880
CM0911152
CM098104
CM067381
CM083684
HM070051
CM910138
CM080283
CM129742
CM106051
CM010866
CM1314195
CM020425
CM900318
CM108717
CM045145
CM098105
CM1212744
CM108718
CM020426
CM061736
CM1314196
CM082628
CM080247
CM990554
CM082644
CM960559
CAG‐TAG
GAA‐TAA
TCA‐TTA
TCA‐TGA
TTT‐TCT
ATT‐ACT
TAT‐TGT
TAT‐TTT
GAG‐AAG
GAG‐TAG
CAG‐TAG
CCC‐CGC
CGC‐TGC
CGC‐CAC
CGC‐CTC
CGC‐AGC
AGC‐AGA
CAA‐CCA
CAA‐TAA
ACA‐GCA
ACA‐AGA
ACA‐TCA
CGA‐CAA
CGA‐GGA
CGA‐CCA
CGA‐TGA
TAT‐TGT
TAT‐TAG
TTT‐TTA
GCT‐GAT
GCT‐ACT
GCT‐GTT
GAG‐AAG
TGG‐CGG
TGG‐TGC
TGG‐TCG
TGG‐TAG
TGG‐TGA
GAT‐GTT
TAT‐TGT
TAT‐CAT
TAT‐TAA
GGG‐GAG
ATG‐ATT
ATG‐GTG
AGG‐GGG
AGG‐ATG
CAG‐TAG
AAA‐AGA
AAA‐AAT
AAA‐CAA
AAA‐GAA
AAA‐TAA
Gln1675Term
Glu1680Term
Ser1688Leu
Ser1688Term
Phe1696Ser
Ile1698Thr
Tyr1699Cys
Tyr1699Phe
Glu1701Lys
Glu1701Term
Gln1705Term
Pro1707Arg
Arg1708Cys
Arg1708His
Arg1708Leu
Arg1708Ser
Ser1709Arg
Gln1711Pro
Gln1711Term
Thr1714Ala
Thr1714Arg
Thr1714Ser
Arg1715Gln
Arg1715Gly
Arg1715Pro
Arg1715Term
Tyr1717Cys
Tyr1717Term
Phe1718Leu
Ala1720Asp
Ala1720Thr
Ala1720Val
Glu1723Lys
Trp1726Arg
Trp1726Cys
Trp1726Ser
Trp1726Term
Trp1726Term
Asp1727Val
Tyr1728Cys
Tyr1728His
Tyr1728Term
Gly1729Glu
Met1730Ile
Met1730Val
Arg1740Gly
Arg1740Met
Gln1748Term
Lys1751Arg
Lys1751Asn
Lys1751Gln
Lys1751Glu
Lys1751Term
5023C>T
5038G>T
5063C>T
5063C>G
5087T>C
5093T>C
5096A>G
5096A>T
5101G>A
5101G>T
5113C>T
5120C>G
5122C>T
5123G>A
5123G>T
5122C>A
5127C>A
5132A>C
5131C>T
5140A>G
5141C>G
5140A>T
5144G>A
5143C>G
5144G>C
5143C>T
5150A>G
5151T>G
5154T>A
5159C>A
5158G>A
5159C>T
5167G>A
5176T>C
5178G>C
5177G>C
5177G>A
5178G>A
5180A>T
5183A>G
5182T>C
5184T>A
5186G>A
5190G>T
5188A>G
5218A>G
5219G>T
5242C>T
5252A>G
5253A>T
5251A>C
5251A>G
5251A>T
Q1675*
E1680*
S1688L
S1688*
F1696S
I1698T
Y1699C
Y1699F
E1701K
E1701*
Q1705*
P1707R
R1708C
R1708H
R1708L
R1708S
S1709R
Q1711P
Q1711*
T1714A
T1714R
T1714S
R1715Q
R1715G
R1715P
R1715*
Y1717C
Y1717*
F1718L
A1720D
A1720T
A1720V
E1723K
W1726R
W1726C
W1726S
W1726*
W1726*
D1727V
Y1728C
Y1728H
Y1728*
G1729E
M1730I
M1730V
R1740G
R1740M
Q1748*
K1751R
K1751N
K1751Q
K1751E
K1751*
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Jayandharan (2009) Haemophilia 15:1228
Guillet (2006) Hum Mutat 27:676
Santacroce (2008) J Hum Genet 53:275
Lillicrap (2005) F8 LSDB entry Unpublished:.
Chen (2010) Haemophilia 16:538
Liu (1998) Br J Haematol 103:1051
Zhang (1999) Genet Anal 15:205
Higuchi (1990) Genomics 6:65
Hill (2005) Haemophilia 11:133
Halldén (2012) J Thromb Haemost 10:2503
Higuchi (1990) Genomics 6:65
Ravanbod (2009) J Thromb Haemost 7S2:1117
Gitschier (1988) Blood 72:1022
Schwaab (1991) Thromb Res 61:225
Guillet (2006) Hum Mutat 27:676
Rydz (2013) Am J Hematol 88:1030
Gallardo (2001) F8 LSDB entry Unpublished:
Nance (2013) Haemophilia 19:720
Rydz (2013) Am J Hematol 88:1030
Rydz (2013) Am J Hematol 88:1030
Green (2008) Br J Haematol 143:115
Frusconi (2002) Hum Mutat 20:231
Fernandez‐Lopez (2005) Haematologica 90:707
Reiner (1992) Hum Genet 89:88
David (2006) Haematologica 91:840
Pattinson (1990) Blood 76:2242
Boekhorst (2005) Br J Haematol 131:109
Ravanbod (2009) J Thromb Haemost 7S2:1117
Castaman (2009) J Thromb Haemost 7:1824
David (2006) Haematologica 91:840
Green (2008) Br J Haematol 143:115
Garcia‐Lozano (2007) Hum Genet 122:418
Paynton (1991) Hum Genet 87:397
Santacroce (2008) J Hum Genet 53:275
Kim (2012) Haemophilia 18:1008
Wang (2010) Haemophilia 16:632
Salviato (2007) Haemophilia 13:361
Rydz (2013) Am J Hematol 88:1030
Cutler (2002) Hum Mutat 19:274
Traystman (1990) Genomics 6:293
Reitter (2010) Thromb Haemost 104:78
Acquila (2004) Haemophilia 10:744
Castaman (2009) J Thromb Haemost 7:1824
Halldén (2012) J Thromb Haemost 10:2503
Reitter (2010) Thromb Haemost 104:78
Cutler (2002) Hum Mutat 19:274
Vinciguerra (2006) Thromb Haemost 95:593
Rydz (2013) Am J Hematol 88:1030
Djambas Khayat (2008) Haemophilia 14:709
Santacroce (2008) J Hum Genet 53:275
Waseem (1999) Thromb Haemost 81:900
Fidanci (2008) Blood Coagul Fibrinolysis 19:383
Becker (1996) Am J Hum Genet 58:657
PubMed 19686262
PubMed 16786531
PubMed 18217193
Source: LSDB
PubMed 20236351
PubMed 9886318
PubMed 10609755
PubMed 2105906
PubMed 15810915
PubMed 23020595
PubMed 2105906
PubMed: No PubMed ID
PubMed 3137981
PubMed 1851341
PubMed 16786531
PubMed 23913812
Source: LSDB
PubMed 23711294
PubMed 23913812
PubMed 23913812
PubMed 18691168
PubMed 12203998
PubMed 15921397
PubMed 1349567
PubMed 16769589
PubMed 1979502
PubMed 16173970
PubMed: No PubMed ID
PubMed 19719828
PubMed 16769589
PubMed 18691168
Source: Online submission
PubMed 1908817
PubMed 18217193
PubMed 22741565
PubMed 20331753
PubMed 17610549
PubMed 23913812
PubMed 11857744
PubMed 2106480
PubMed 20431853
PubMed 15569173
PubMed 19719828
PubMed 23020595
PubMed 20431853
PubMed 11857744
PubMed 16601827
PubMed 23913812
PubMed 18479430
PubMed 18217193
PubMed 10404764
PubMed 18600086
PubMed 8644728
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM083651
CM111356
CM121367
CM057455
CM0911155
CM105301
CM055187
CM067385
CM0910951
CM062657
CM055199
CM081260
CM057441
CM121369
CM053259
CM057451
CM055192
CM010867
CM950407
CM054667
CM010868
CM1212746
HM070055
CM111357
CM067377
CM071726
CM055173
CM950408
CM073057
CM141465
CM950409
HM070050
CM053869
CM021988
CM980702
CM930225
CM0911120
CM0910924
CM020124
CM062664
CM1314173
CM082654
CM010869
CM138665
CM055175
CM083663
CM082630
CM123913
CM067380
CM015869
CM055179
CM082636
CM920259
GTT‐ATT
GTT‐CTT
TTC‐TGC
TTC‐CTC
CAG‐TAG
TTT‐TGT
TTT‐CTT
GAT‐AAT
GAT‐CAT
TCC‐CCC
TTT‐CTT
TTT‐TTA
CAG‐CGG
CAG‐TAG
TAC‐TAA
TAC‐TAG
CGT‐TGT
CGT‐CAT
GGA‐AGA
GAA‐AAA
CTA‐CCA
AAT‐ATT
AAT‐AAA
GAA‐TAA
CAT‐CGT
CAT‐CTT
CAT‐TAT
TTG‐TTC
TTG‐TCG
TTG‐TGG
TTG‐GTG
GGA‐GTA
CTC‐TTC
CTC‐CCC
GGG‐AGG
GGG‐GAG
CCA‐CGA
CCA‐CAA
CCA‐CTA
CCA‐TCA
CCA‐ACA
TAT‐TAA
ATA‐AGA
AGA‐GGA
AGA‐ACA
GAA‐GCA
GAA‐AAA
GTT‐GGT
GAT‐GGT
GAT‐CAT
GAT‐TAT
ATG‐ATA
ATG‐ACG
Val1752Ile
Val1752Leu
Phe1754Cys
Phe1754Leu
Gln1755Term
Phe1757Cys
Phe1757Leu
Asp1759Asn
Asp1759His
Ser1761Pro
Phe1762Leu
Phe1762Leu
Gln1764Arg
Gln1764Term
Tyr1767Term
Tyr1767Term
Arg1768Cys
Arg1768His
Gly1769Arg
Glu1770Lys
Leu1771Pro
Asn1772Ile
Asn1772Lys
Glu1773Term
His1774Arg
His1774Leu
His1774Tyr
Leu1775Phe
Leu1775Ser
Leu1775Trp
Leu1775Val
Gly1776Val
Leu1777Phe
Leu1777Pro
Gly1779Arg
Gly1779Glu
Pro1780Arg
Pro1780Gln
Pro1780Leu
Pro1780Ser
Pro1780Thr
Tyr1781Term
Ile1782Arg
Arg1783Gly
Arg1783Thr
Glu1785Ala
Glu1785Lys
Val1786Gly
Asp1788Gly
Asp1788His
Asp1788Tyr
Met1791Ile
Met1791Thr
5254G>A
5254G>C
5261T>G
5260T>C
5263C>T
5270T>G
5269T>C
5275G>A
5275G>C
5281T>C
5284T>C
5286T>A
5291A>G
5290C>T
5301C>A
5301C>G
5302C>T
5303G>A
5305G>A
5308G>A
5312T>C
5315A>T
5316T>A
5317G>T
5321A>G
5321A>T
5320C>T
5325G>C
5324T>C
5324T>G
5323T>G
5327G>T
5329C>T
5330T>C
5335G>A
5336G>A
5339C>G
5339C>A
5339C>T
5338C>T
5338C>A
5343T>A
5345T>G
5347A>G
5348G>C
5354A>C
5353G>A
5357T>G
5363A>G
5362G>C
5362G>T
5373G>A
5372T>C
V1752I
V1752L
F1754C
F1754L
Q1755*
F1757C
F1757L
D1759N
D1759H
S1761P
F1762L
F1762L
Q1764R
Q1764*
Y1767*
Y1767*
R1768C
R1768H
G1769R
E1770K
L1771P
N1772I
N1772K
E1773*
H1774R
H1774L
H1774Y
L1775F
L1775S
L1775W
L1775V
G1776V
L1777F
L1777P
G1779R
G1779E
P1780R
P1780Q
P1780L
P1780S
P1780T
Y1781*
I1782R
R1783G
R1783T
E1785A
E1785K
V1786G
D1788G
D1788H
D1788Y
M1791I
M1791T
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Green (2008) Br J Haematol 143:115
Gouw (2011) Haemophilia 17:275
Dai (2012) Haemophilia 18:235
Fernandez‐Lopez (2005) Haematologica 90:707
Ravanbod (2009) J Thromb Haemost 7S2:1117
Riccardi (2010) Haemophilia 16:791
Casey (2005) F8 LSDB entry Unpublished:.
David (2006) Haematologica 91:840
Markoff (2009) Haemophilia 15:932
Guillet (2006) Hum Mutat 27:676
Ahmed (2005) Haematologica 90:283
Vencesla (2008) Blood 111:3468
Fernandez‐Lopez (2005) Haematologica 90:707
Dai (2012) Haemophilia 18:235
Bogdanova (2005) Hum Mutat 26:249
Fernandez‐Lopez (2005) Haematologica 90:707
Nesbitt (2005) F8 LSDB entry Unpublished:.
Habart (2003) J Thromb Haemost 1:773
Schwaab (1995) Br J Haematol 91:458
Jayandharan (2005) Haemophilia 11:481
Habart (2003) J Thromb Haemost 1:773
Halldén (2012) J Thromb Haemost 10:2503
Garcia‐Lozano (2007) Hum Genet 122:419
Gouw (2011) Haemophilia 17:275
David (2006) Haematologica 91:840
Castaman (2007) Haemophilia 13:311
Nesbitt (2005) F8 LSDB entry Unpublished:.
Schwaab (1995) Br J Haematol 91:458
Repesse (2007) J Thromb Haemost 5:1469
Khanum (2014) Haemophilia 20:287
Schwaab (1995) Br J Haematol 91:458
Garcia‐Lozano (2007) Hum Genet 122:417
Boekhorst (2005) Br J Haematol 131:109
Frusconi (2002) Hum Mutat 20:231
Liu (1998) Br J Haematol 103:1051
Lin (1993) Genomics 18:496
Ravanbod (2009) J Thromb Haemost 7S2:1117
Eckhardt (2009) J Thromb Haemost 7:930
Liu (2002) Thromb Haemost 87:273
Guillet (2006) Hum Mutat 27:676
Rydz (2013) Am J Hematol 88:1030
Lin (2008) BMC Med Genet 9:53
Vidal (2001) Thromb Haemost 85:580
Rosset (2013) Haemophilia 19:773
Western (2005) F8 LSDB entry Unpublished:.
Green (2008) Br J Haematol 143:115
Lin (2008) BMC Med Genet 9:53
Miller (2012) Haemophilia 18:375
David (2006) Haematologica 91:840
Timur (2001) Haemophilia 7:475
Lillicrap (2005) F8 LSDB entry Unpublished:.
Ma (2008) Haemophilia 14:787
Aly (1992) Proc Natl Acad Sci U S A 89:4933
PubMed 18691168
PubMed 21070499
PubMed 21910785
PubMed 15921397
PubMed: No PubMed ID
PubMed 20331761
Source: LSDB
PubMed 16769589
PubMed 19473423
PubMed 16786531
PubMed 15710596
PubMed 18184865
PubMed 15921397
PubMed 21910785
PubMed 16086318
PubMed 15921397
Source: LSDB
PubMed 12871415
PubMed 8547094
PubMed 16128892
PubMed 12871415
PubMed 23020595
Source: Online submission
PubMed 21070499
PubMed 16769589
PubMed 17498081
Source: LSDB
PubMed 8547094
PubMed 17445092
PubMed 24118398
PubMed 8547094
Source: Online submission
PubMed 16173970
PubMed 12203998
PubMed 9886318
PubMed 8307558
PubMed: No PubMed ID
PubMed 19548904
PubMed 11858487
PubMed 16786531
PubMed 23913812
PubMed 18565236
PubMed 11341489
PubMed 23711237
Source: LSDB
PubMed 18691168
PubMed 18565236
PubMed 22103590
PubMed 16769589
PubMed 11554935
Source: LSDB
PubMed 18371163
PubMed 1594597
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM108719
CM136356
CM073058
CM1212747
CM125456
CM138651
CM080249
CM990555
CM020125
CM062674
CM0911114
CM083668
CM055196
CM920260
CM950410
CM910139
CM066566
CM1314174
CM080331
CM980703
CM990556
CM010870
CM083680
CM061762
CM910140
CM1212748
BM1178340
CM031986
CM080277
CM108720
CM138710
CM073049
CM053261
CM0911118
CM1314175
CM080318
CM057434
CM920261
CM1314176
CM057454
CM138711
CM054675
CM123846
CM930226
CM012945
CM125452
CM094289
CM083688
CM070112
CM062692
CM057453
CM1314177
CM0911153
GTA‐GCA
ACT‐AAT
TTC‐CTC
TTC‐TAC
TTC‐GTC
AAT‐GAT
AAT‐AGT
CAG‐TAG
GCC‐CCC
GCC‐TCC
GCC‐ACC
GCC‐GTC
TCT‐CCT
CGT‐TGT
CGT‐GGT
CGT‐CAT
CGT‐CTT
CGT‐CCT
CGT‐AGT
CCC‐GCC
TAT‐TGT
TAT‐TCT
TAT‐TAG
TCC‐CCC
TCC‐TAC
TTC‐CTC
TTC‐TTG
TTC‐TCC
TAT‐AAT
TAT‐TGT
TAT‐TTT
TAT‐TCT
TAT‐TAA
TCT‐CCT
TCT‐TAT
AGC‐GGC
AGC‐ACC
CTT‐TTT
ATT‐ACT
TCT‐CCT
TAT‐TGT
TAT‐TAA
GAG‐TAG
CAG‐TAG
GGA‐TGA
AGA‐AAA
AAC‐ATC
TAC‐GAC
TAC‐TGC
TGG‐TAG
TGG‐TGA
AAA‐ATA
AAA‐TAA
Val1792Ala
Thr1793Asn
Phe1794Leu
Phe1794Tyr
Phe1794Val
Asn1796Asp
Asn1796Ser
Gln1797Term
Ala1798Pro
Ala1798Ser
Ala1798Thr
Ala1798Val
Ser1799Pro
Arg1800Cys
Arg1800Gly
Arg1800His
Arg1800Leu
Arg1800Pro
Arg1800Ser
Pro1801Ala
Tyr1802Cys
Tyr1802Ser
Tyr1802Term
Ser1803Pro
Ser1803Tyr
Phe1804Leu
Phe1804Leu
Phe1804Ser
Tyr1805Asn
Tyr1805Cys
Tyr1805Phe
Tyr1805Ser
Tyr1805Term
Ser1806Pro
Ser1806Tyr
Ser1807Gly
Ser1807Thr
Leu1808Phe
Ile1809Thr
Ser1810Pro
Tyr1811Cys
Tyr1811Term
Glu1812Term
Gln1815Term
Gly1818Term
Arg1822Lys
Asn1824Ile
Tyr1834Asp
Tyr1834Cys
Trp1836Term
Trp1836Term
Lys1837Ile
Lys1837Term
5375T>C
5378C>A
5380T>C
5381T>A
5380T>G
5386A>G
5387A>G
5389C>T
5392G>C
5392G>T
5392G>A
5393C>T
5395T>C
5398C>T
5398C>G
5399G>A
5399G>T
5399G>C
5398C>A
5401C>G
5405A>G
5405A>C
5406T>G
5407T>C
5408C>A
5410T>C
5412C>G
5411T>C
5413T>A
5414A>G
5414A>T
5414A>C
5415T>A
5416T>C
5417C>A
5419A>G
5420G>C
5422C>T
5426T>C
5428T>C
5432A>G
5433T>A
5434G>T
5443C>T
5452G>T
5465G>A
5471A>T
5500T>G
5501A>G
5507G>A
5508G>A
5510A>T
5509A>T
V1792A
T1793N
F1794L
F1794Y
F1794V
N1796D
N1796S
Q1797*
A1798P
A1798S
A1798T
A1798V
S1799P
R1800C
R1800G
R1800H
R1800L
R1800P
R1800S
P1801A
Y1802C
Y1802S
Y1802*
S1803P
S1803Y
F1804L
F1804L
F1804S
Y1805N
Y1805C
Y1805F
Y1805S
Y1805*
S1806P
S1806Y
S1807G
S1807T
L1808F
I1809T
S1810P
Y1811C
Y1811*
E1812*
Q1815*
G1818*
R1822K
N1824I
Y1834D
Y1834C
W1836*
W1836*
K1837I
K1837*
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Reitter (2010) Thromb Haemost 104:78
Inaba (2013) Int J Hematol 97:758
Laurie (2007) Haemophilia 13:420
Halldén (2012) J Thromb Haemost 10:2503
Eckhardt (2012) Haemophilia 18S3:96
Nance (2013) Haemophilia 19:720
Santacroce (2008) J Hum Genet 53:275
Moller‐Morlang (1999) Hum Mutat 13:504
Liu (2002) Thromb Haemost 87:273
Guillet (2006) Hum Mutat 27:676
Ravanbod (2009) J Thromb Haemost 7S2:1117
Green (2008) Br J Haematol 143:115
Nesbitt (2005) F8 LSDB entry Unpublished:.
Jonsdottir (1992) Hum Mutat 1:506
Schwaab (1995) Br J Haematol 91:458
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Habart (2006) Cas Lek Cesk 145:484
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Liu (1998) Br J Haematol 103:1051
Waseem (1999) Thromb Haemost 81:900
Tagariello (2001) F8 LSDB entry Unpublished:
Green (2008) Br J Haematol 143:115
Vinciguerra (2006) Thromb Haemost 95:593
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Halldén (2012) J Thromb Haemost 10:2503
Trossaërt (2011) J Thromb Haemost 9:524
Bicocchi (2003) Br J Haematol 122:810
Santacroce (2008) J Hum Genet 53:275
Reitter (2010) Thromb Haemost 104:78
Rosset (2013) Haemophilia 19:773
Repesse (2007) J Thromb Haemost 5:1469
Bogdanova (2005) Hum Mutat 26:249
Ravanbod (2009) J Thromb Haemost 7S2:1117
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Fernandez‐Lopez (2005) Haematologica 90:707
Diamond (1992) Hum Mutat 1:248
Rydz (2013) Am J Hematol 88:1030
Fernandez‐Lopez (2005) Haematologica 90:707
Rosset (2013) Haemophilia 19:773
Hill (2005) Haemophilia 11:133
Miller (2012) Haemophilia 18:375
Lin (1993) Genomics 18:496
Leuer (2001) Am J Hum Genet 69:75
Faridi (2012) Haemophilia 18S3:137
Sirocova (2009) Haemophilia 15:942
Green (2008) Br J Haematol 143:115
Bogdanova (2007) Hum Mutat 28:54
Guillet (2006) Hum Mutat 27:676
Fernandez‐Lopez (2005) Haematologica 90:707
Rydz (2013) Am J Hematol 88:1030
Ravanbod (2009) J Thromb Haemost 7S2:1117
PubMed 20431853
PubMed 23625609
PubMed 17610560
PubMed 23020595
PubMed: No PubMed ID
PubMed 23711294
PubMed 18217193
PubMed 10408784
PubMed 11858487
PubMed 16786531
PubMed: No PubMed ID
PubMed 18691168
Source: LSDB
PubMed 1301960
PubMed 8547094
PubMed 1908096
PubMed 16836003
PubMed 23913812
PubMed 18217193
PubMed 9886318
PubMed 10404764
Source: LSDB
PubMed 18691168
PubMed 16601827
PubMed 1908096
PubMed 23020595
PubMed 21166991
PubMed 12930394
PubMed 18217193
PubMed 20431853
PubMed 23711237
PubMed 17445092
PubMed 16086318
PubMed: No PubMed ID
PubMed 23913812
PubMed 18217193
PubMed 15921397
PubMed 1301932
PubMed 23913812
PubMed 15921397
PubMed 23711237
PubMed 15810915
PubMed 22103590
PubMed 8307558
PubMed 11410838
PubMed: No PubMed ID
PubMed 19473408
PubMed 18691168
PubMed 16972227
PubMed 16786531
PubMed 15921397
PubMed 23913812
PubMed: No PubMed ID
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM080297
CM080266
CM930227
CM083679
CM055209
CM062663
CM070098
CM057442
CM910141
CM920262
CM930228
CM055203
CM123914
CM020126
CM083683
CM083665
CM025259
CM111358
CM071730
CM055188
CM950411
CM930229
CM071731
CM080285
CM010871
CM054682
CM0910952
CM141482
CM094288
CM101342
CM980704
CM020427
CM073052
CM082646
CM083670
CM990557
CM960560
CM0910971
CM0910953
CM960561
CM910142
CM950412
CM057070
CM073044
CM1212749
CM020428
CM0911130
CM980705
CM0911135
CM103770
CM010872
CM960562
CM085396
CAA‐TAA
CAT‐CTT
ATG‐ATA
ATG‐CTG
GCA‐ACA
GCA‐GTA
CCC‐CAC
CCC‐CTC
CCC‐TCC
ACT‐CCT
AAA‐TAA
GAG‐GCG
GAG‐GAC
GAG‐GGG
GAG‐AAG
GAG‐GTG
TTT‐TTG
TGC‐CGC
TGC‐TGA
AAA‐GAA
GCC‐ACC
GCC‐GTC
TGG‐TGT
TGG‐GGG
TGG‐TAG
TGG‐TGA
GCT‐GAT
TAT‐GAT
TAT‐TGT
TAT‐TCT
TAT‐TAG
TCT‐TGT
TCT‐TTT
GAT‐GGT
GAA‐AAA
AAA‐GAA
GAT‐AAT
GAT‐GAA
GAT‐GGT
GAT‐TAT
CAC‐CGC
CAC‐CCC
TCA‐TTA
TCA‐CCA
TCA‐TGA
GGC‐GAC
GGC‐AGC
GGC‐GTC
CTG‐CGG
GGA‐AGA
GGA‐GAA
CCC‐CGC
CCC‐CTC
Gln1839Term
His1841Leu
Met1842Ile
Met1842Leu
Ala1843Thr
Ala1843Val
Pro1844His
Pro1844Leu
Pro1844Ser
Thr1845Pro
Lys1846Term
Glu1848Ala
Glu1848Asp
Glu1848Gly
Glu1848Lys
Glu1848Val
Phe1849Leu
Cys1851Arg
Cys1851Term
Lys1852Glu
Ala1853Thr
Ala1853Val
Trp1854Cys
Trp1854Gly
Trp1854Term
Trp1854Term
Ala1855Asp
Tyr1856Asp
Tyr1856Cys
Tyr1856Ser
Tyr1856Term
Ser1858Cys
Ser1858Phe
Asp1859Gly
Glu1863Lys
Lys1864Glu
Asp1865Asn
Asp1865Glu
Asp1865Gly
Asp1865Tyr
His1867Arg
His1867Pro
Ser1868Leu
Ser1868Pro
Ser1868Term
Gly1869Asp
Gly1869Ser
Gly1869Val
Leu1870Arg
Gly1872Arg
Gly1872Glu
Pro1873Arg
Pro1873Leu
5515C>T
5522A>T
5526G>A
5524A>C
5527G>A
5528C>T
5531C>A
5531C>T
5530C>T
5533A>C
5536A>T
5543A>C
5544G>C
5543A>G
5542G>A
5543A>T
5547T>G
5551T>C
5553C>A
5554A>G
5557G>A
5558C>T
5562G>T
5560T>G
5561G>A
5562G>A
5564C>A
5566T>G
5567A>G
5567A>C
5568T>G
5573C>G
5573C>T
5576A>G
5587G>A
5590A>G
5593G>A
5595T>A
5594A>G
5593G>T
5600A>G
5600A>C
5603C>T
5602T>C
5603C>G
5606G>A
5605G>A
5606G>T
5609T>G
5614G>A
5615G>A
5618C>G
5618C>T
Q1839*
H1841L
M1842I
M1842L
A1843T
A1843V
P1844H
P1844L
P1844S
T1845P
K1846*
E1848A
E1848D
E1848G
E1848K
E1848V
F1849L
C1851R
C1851*
K1852E
A1853T
A1853V
W1854C
W1854G
W1854*
W1854*
A1855D
Y1856D
Y1856C
Y1856S
Y1856*
S1858C
S1858F
D1859G
E1863K
K1864E
D1865N
D1865E
D1865G
D1865Y
H1867R
H1867P
S1868L
S1868P
S1868*
G1869D
G1869S
G1869V
L1870R
G1872R
G1872E
P1873R
P1873L
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Santacroce (2008) J Hum Genet 53:275
Santacroce (2008) J Hum Genet 53:275
Lin (1993) Genomics 18:496
Green (2008) Br J Haematol 143:115
Fernandez‐Lopez (2005) Haematologica 90:707
Guillet (2006) Hum Mutat 27:676
Bogdanova (2007) Hum Mutat 28:54
Fernandez‐Lopez (2005) Haematologica 90:707
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Economou (1992) Genomics 13:909
Lin (1993) Genomics 18:496
Nesbitt (2005) F8 LSDB entry Unpublished:.
Miller (2012) Haemophilia 18:375
Liu (2002) Thromb Haemost 87:273
Green (2008) Br J Haematol 143:115
Green (2008) Br J Haematol 143:115
Cutler (2002) F8 LSDB entry Unpublished:.
Gouw (2011) Haemophilia 17:275
Castaman (2007) Haemophilia 13:311
Bogdanova (2005) F8 LSDB entry Unpublished:.
Bidichandani (1995) Hum Genet 95:531
Lin (1993) Genomics 18:496
Castaman (2007) Haemophilia 13:311
Santacroce (2008) J Hum Genet 53:275
Ljung (2001) F8 LSDB entry Unpublished:
Jayandharan (2005) Haemophilia 11:481
Markoff (2009) Haemophilia 15:932
Khanum (2014) Haemophilia 20:287
Sirocova (2009) Haemophilia 15:942
Hua (2010) Chin Med J (Engl) 123:305
Williams (1998) Thromb Haemost 79:723
Cutler (2002) Hum Mutat 19:274
Laurie (2007) Haemophilia 13:420
Lin (2008) BMC Med Genet 9:53
Green (2008) Br J Haematol 143:115
Waseem (1999) Thromb Haemost 81:900
Becker (1996) Am J Hum Genet 58:657
Markoff (2009) Haemophilia 15:932
Casaña (2008) Haematologica 93:1091
Becker (1996) Am J Hum Genet 58:657
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Arruda (1995) Blood 86:3015
Astermark (2005) Haematologica 90:924
Laurie (2007) Haemophilia 13:420
Halldén (2012) J Thromb Haemost 10:2503
Cutler (2002) Hum Mutat 19:274
Ravanbod (2009) J Thromb Haemost 7S2:1117
Tavassoli (1998) Hum Mutat 12:301
Ravanbod (2009) J Thromb Haemost 7S2:1117
Xue (2010) Eur J Haematol 85:264
Vidal (2001) Thromb Haemost 85:580
Becker (1996) Am J Hum Genet 58:657
Green (2008) Br J Haematol 143:115
PubMed 18217193
PubMed 18217193
PubMed 8307558
PubMed 18691168
PubMed 15921397
PubMed 16786531
PubMed 16972227
PubMed 15921397
PubMed 1924291
PubMed 1639429
PubMed 8307558
Source: LSDB
PubMed 22103590
PubMed 11858487
PubMed 18691168
PubMed 18691168
Source: LSDB
PubMed 21070499
PubMed 17498081
Source: LSDB
PubMed 7759074
PubMed 8307558
PubMed 17498081
PubMed 18217193
Source: LSDB
PubMed 16128892
PubMed 19473423
PubMed 24118398
PubMed 19473408
PubMed 20193250
PubMed 9569180
PubMed 11857744
PubMed 17610560
PubMed 18565236
PubMed 18691168
PubMed 10404764
PubMed 8644728
PubMed 19473423
PubMed 18403393
PubMed 8644728
PubMed 1924291
PubMed 7579394
PubMed 15996930
PubMed 17610560
PubMed 23020595
PubMed 11857744
PubMed: No PubMed ID
PubMed 9792405
PubMed: No PubMed ID
PubMed 20528906
PubMed 11341489
PubMed 8644728
PubMed 18691168
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM022354
CM010873
CM022355
CM1314126
CM116677
CM136357
CM990558
CM950413
CM080294
CM123915
CM020127
CM070108
CM080257
CM930230
CM980706
CM053257
CM135806
CM119439
CM061756
CM0911131
CM054670
CM1314178
CM980707
CM034808
CM055204
CM930231
CM020128
CM136358
CM020129
HM080095
CM970476
CM141476
CM010874
CM098106
CM055169
CM116678
CM020276
CM141480
CM081258
CM1212750
CM083822
CM105304
CM083809
CM061746
CM020130
CM025249
CM083806
CM900095
CM083805
CM123916
CM910143
CM1212751
CM011331
CTG‐CCG
GTC‐CTC
TGC‐CGC
TGC‐TGA
TGC‐TAC
CAC‐CCC
CTG‐CCG
AGA‐ATA
AGA‐TGA
CAA‐CAT
CAA‐TAA
GTA‐GGA
GTA‐ATA
CAG‐TAG
GAA‐GGA
GAA‐AAA
GAA‐TAA
TTT‐TCT
GCT‐CCT
TTC‐TCC
ATC‐ATA
ATC‐ATG
ATC‐TTC
GAG‐GAC
GAG‐GGG
GAG‐AAG
AGC‐AGG
AGC‐AAC
AGC‐TGC
AGC‐ATC
TGG‐TTG
TGG‐TGA
TAC‐TGC
AAT‐AAG
AAT‐AGT
GAA‐TAA
TGC‐TGA
GAG‐TAG
TAT‐TAA
CGC‐TGC
TTC‐TCC
CAT‐CGT
CAT‐CTT
GCA‐GAA
GCA‐ACA
GCA‐GTA
ATC‐AAC
AAT‐GAT
AAT‐ATT
AAT‐AAA
AAT‐AGT
AAT‐ACT
GGC‐GCC
Leu1875Pro
Val1876Leu
Cys1877Arg
Cys1877Term
Cys1877Tyr
His1878Pro
Leu1882Pro
Arg1888Ile
Arg1888Term
Gln1889His
Gln1889Term
Val1892Gly
Val1892Ile
Gln1893Term
Glu1894Gly
Glu1894Lys
Glu1894Term
Phe1895Ser
Ala1896Pro
Phe1899Ser
Ile1901Ile
Ile1901Met
Ile1901Phe
Glu1904Asp
Glu1904Gly
Glu1904Lys
Ser1907Arg
Ser1907Asn
Ser1907Cys
Ser1907Ile
Trp1908Leu
Trp1908Term
Tyr1909Cys
Asn1913Lys
Asn1913Ser
Glu1915Term
Cys1922Term
Glu1933Term
Tyr1935Term
Arg1936Cys
Phe1937Ser
His1938Arg
His1938Leu
Ala1939Glu
Ala1939Thr
Ala1939Val
Ile1940Asn
Asn1941Asp
Asn1941Ile
Asn1941Lys
Asn1941Ser
Asn1941Thr
Gly1942Ala
5624T>C
5626G>C
5629T>C
5631C>A
5630G>A
5633A>C
5645T>C
5663G>T
5662A>T
5667A>T
5665C>T
5675T>G
5674G>A
5677C>T
5681A>G
5680G>A
5680G>T
5684T>C
5686G>C
5696T>C
5703C>A
5703C>G
5701A>T
5712G>C
5711A>G
5710G>A
5721C>G
5720G>A
5719A>T
5720G>T
5723G>T
5724G>A
5726A>G
5739T>G
5738A>G
5743G>T
5766C>A
5797G>T
5805T>A
5806C>T
5810T>C
5813A>G
5813A>T
5816C>A
5815G>A
5816C>T
5819T>A
5821A>G
5822A>T
5823T>A
5822A>G
5822A>C
5825G>C
L1875P
V1876L
C1877R
C1877*
C1877Y
H1878P
L1882P
R1888I
R1888*
Q1889H
Q1889*
V1892G
V1892I
Q1893*
E1894G
E1894K
E1894*
F1895S
A1896P
F1899S
I1901I
I1901M
I1901F
E1904D
E1904G
E1904K
S1907R
S1907N
S1907C
S1907I
W1908L
W1908*
Y1909C
N1913K
N1913S
E1915*
C1922*
E1933*
Y1935*
R1936C
F1937S
H1938R
H1938L
A1939E
A1939T
A1939V
I1940N
N1941D
N1941I
N1941K
N1941S
N1941T
G1942A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Citron (2002) Hum Mutat 20:267
Timur (2001) Haemophilia 7:475
Citron (2002) Hum Mutat 20:267
Rydz (2013) Am J Hematol 88:1030
Albánez (2011) Haemophilia 17:e913
Inaba (2013) Int J Hematol 97:758
Waseem (1999) Thromb Haemost 81:900
Bidichandani (1995) Hum Genet 95:531
Santacroce (2008) J Hum Genet 53:275
Miller (2012) Haemophilia 18:375
Liu (2002) Thromb Haemost 87:273
Bogdanova (2007) Hum Mutat 28:54
Santacroce (2008) J Hum Genet 53:275
Naylor (1993) Hum Mol Genet 2:11
Tavassoli (1998) Hum Mutat S1:S260
Bogdanova (2005) Hum Mutat 26:249
Rossetti (2013) Haemophilia 19:511
Silva Pinto (2012) Haemophilia 18:129
Vinciguerra (2006) Thromb Haemost 95:593
Ravanbod (2009) J Thromb Haemost 7S2:1117
Jayandharan (2005) Haemophilia 11:481
Rydz (2013) Am J Hematol 88:1030
Liu (1998) Br J Haematol 103:1051
Habart (2003) J Thromb Haemost 1:773
Gallardo (2005) F8 LSDB entry Unpublished:.
Lin (1993) Genomics 18:496
Liu (2002) Thromb Haemost 87:273
Inaba (2013) Int J Hematol 97:758
Liu (2002) Thromb Haemost 87:273
Niazi (2009) Hum Genet 126:334
Tavassoli (1997) Hum Genet 100:508
Khanum (2014) Haemophilia 20:287
Tagariello (2000) Haematologica 85:525
Castaman (2009) J Thromb Haemost 7:1824
Fidalgo (2005) F8 LSDB entry Unpublished:.
Albánez (2011) Haemophilia 17:e913
Liu (2002) Thromb Haemost 87:273
Khanum (2014) Haemophilia 20:287
Vencesla (2008) Blood 111:3468
Halldén (2012) J Thromb Haemost 10:2503
Green (2008) Br J Haematol 143:115
Riccardi (2010) Haemophilia 16:791
Green (2008) Br J Haematol 143:115
Vinciguerra (2006) Thromb Haemost 95:593
Liu (2002) Thromb Haemost 87:273
Liu (2002) Thromb Haemost 87:273
Green (2008) Br J Haematol 143:115
Traystman (1990) Genomics 6:293
Green (2008) Br J Haematol 143:115
Miller (2012) Haemophilia 18:375
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Halldén (2012) J Thromb Haemost 10:2503
Ivaskevicius (2001) Br J Haematol 112:1062
PubMed 12325022
PubMed 11554935
PubMed 12325022
PubMed 23913812
PubMed 21371196
PubMed 23625609
PubMed 10404764
PubMed 7759074
PubMed 18217193
PubMed 22103590
PubMed 11858487
PubMed 16972227
PubMed 18217193
PubMed 8490618
PubMed 9452104
PubMed 16086318
PubMed 23534532
PubMed 21645180
PubMed 16601827
PubMed: No PubMed ID
PubMed 16128892
PubMed 23913812
PubMed 9886318
PubMed 12871415
Source: LSDB
PubMed 8307558
PubMed 11858487
PubMed 23625609
PubMed 11858487
Source: Online submission
PubMed 9341862
PubMed 24118398
PubMed 10800171
PubMed 19719828
Source: LSDB
PubMed 21371196
PubMed 11858487
PubMed 24118398
PubMed 18184865
PubMed 23020595
PubMed 18691168
PubMed 20331761
PubMed 18691168
PubMed 16601827
PubMed 11858487
PubMed 11858487
PubMed 18691168
PubMed 2106480
PubMed 18691168
PubMed 22103590
PubMed 1908096
PubMed 23020595
PubMed 11298607
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM0910954
CM080303
CM083815
CM108721
CM021588
CM080296
CM1212649
CM025247
CM960563
CM055223
CM900096
CM920263
CM121370
CM860007
CM076178
CM057437
CM930232
CM050254
CM083816
CM083818
CM011332
CM022356
CM970477
CM054671
CM0910955
CM942032
CM020429
CM1314179
CM960564
CM138652
CM080265
CM990559
CM1212752
CM121371
CM057438
CM025246
CM0910956
CM123983
CM053246
CM062649
CM010875
CM950414
CM062650
CM962543
CM034809
CM950415
CM025257
CM0910957
CM020131
CM083817
CM980708
CM010876
CM930233
GGC‐CGC
GGC‐GAC
GGC‐GTC
TAC‐TGC
ATG‐GTG
GAT‐GTT
CTA‐CGA
CTA‐CCA
TTA‐TTT
CAA‐TAA
CGA‐CAA
CGA‐CTA
CGA‐CCA
CGA‐TGA
TGG‐AGG
TGG‐CGG
TGG‐TAG
TGG‐TGA
TAT‐GAT
TAT‐TGT
CTG‐CCG
AGC‐ATC
ATG‐ATA
ATG‐GTG
GGC‐CGC
GGC‐GAC
AGC‐AGA
AAT‐GAT
AAC‐ACC
AAC‐TAC
CAT‐CGT
CAT‐CTT
CAT‐CCT
TCT‐TTT
ATT‐AAT
ATT‐ACT
CAT‐CGT
CAT‐GAT
AGT‐AGG
AGT‐GGT
GGA‐GAA
GGA‐GTA
CAT‐CGT
CAT‐GAT
CAT‐CCT
CAT‐TAT
GTG‐CTG
GTG‐ATG
TTC‐ATC
TTC‐CTC
CGA‐CAA
CGA‐CCA
CGA‐TGA
Gly1942Arg
Gly1942Asp
Gly1942Val
Tyr1943Cys
Met1945Val
Asp1946Val
Leu1948Arg
Leu1948Pro
Leu1951Phe
Gln1957Term
Arg1960Gln
Arg1960Leu
Arg1960Pro
Arg1960Term
Trp1961Arg
Trp1961Arg
Trp1961Term
Trp1961Term
Tyr1962Asp
Tyr1962Cys
Leu1963Pro
Ser1965Ile
Met1966Ile
Met1966Val
Gly1967Arg
Gly1967Asp
Ser1968Arg
Asn1969Asp
Asn1971Thr
Asn1971Tyr
His1973Arg
His1973Leu
His1973Pro
Ser1974Phe
Ile1975Asn
Ile1975Thr
His1976Arg
His1976Asp
Ser1978Arg
Ser1978Gly
Gly1979Glu
Gly1979Val
His1980Arg
His1980Asp
His1980Pro
His1980Tyr
Val1981Leu
Val1981Met
Phe1982Ile
Phe1982Leu
Arg1985Gln
Arg1985Pro
Arg1985Term
5824G>C
5825G>A
5825G>T
5828A>G
5833A>G
5837A>T
5843T>G
5843T>C
5853A>T
5869C>T
5879G>A
5879G>T
5879G>C
5878C>T
5881T>A
5881T>C
5882G>A
5883G>A
5884T>G
5885A>G
5888T>C
5894G>T
5898G>A
5896A>G
5899G>C
5900G>A
5904C>A
5905A>G
5912A>C
5911A>T
5918A>G
5918A>T
5918A>C
5921C>T
5924T>A
5924T>C
5927A>G
5926C>G
5934T>G
5932A>G
5936G>A
5936G>T
5939A>G
5938C>G
5939A>C
5938C>T
5941G>C
5941G>A
5944T>A
5944T>C
5954G>A
5954G>C
5953C>T
G1942R
G1942D
G1942V
Y1943C
M1945V
D1946V
L1948R
L1948P
L1951F
Q1957*
R1960Q
R1960L
R1960P
R1960*
W1961R
W1961R
W1961*
W1961*
Y1962D
Y1962C
L1963P
S1965I
M1966I
M1966V
G1967R
G1967D
S1968R
N1969D
N1971T
N1971Y
H1973R
H1973L
H1973P
S1974F
I1975N
I1975T
H1976R
H1976D
S1978R
S1978G
G1979E
G1979V
H1980R
H1980D
H1980P
H1980Y
V1981L
V1981M
F1982I
F1982L
R1985Q
R1985P
R1985*
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Markoff (2009) Haemophilia 15:932
Santacroce (2008) J Hum Genet 53:275
Green (2008) Br J Haematol 143:115
Reitter (2010) Thromb Haemost 104:78
Klopp (2002) Thromb Haemost 88:357
Santacroce (2008) J Hum Genet 53:275
Holstein (2012) Hamostaseologie 32S1:S48
Fogel (2008) Neurogenetics 9:215
Rudzki (1996) Br J Haematol 94:400
Berber (2006) J Thromb Haemost 4:1756
Levinson (1990) Am J Hum Genet 46:53
Nafa (1992) Hum Mutat 1:77
Dai (2012) Haemophilia 18:235
Youssoufian (1986) Nature 324:380
Rossetti (2007) Haematologica 92:842
Fernandez‐Lopez (2005) Haematologica 90:707
Lin (1993) Genomics 18:496
Bicocchi (2005) Am J Hematol 78:117
Green (2008) Br J Haematol 143:115
Green (2008) Br J Haematol 143:115
Ivaskevicius (2001) Br J Haematol 112:1062
Citron (2002) Hum Mutat 20:267
Mazurier (1997) Br J Haematol 96:426
Hill (2005) Haemophilia 11:133
Markoff (2009) Haemophilia 15:932
David (1994) Blood Coagul Fibrinolysis 5:257
Cutler (2002) Hum Mutat 19:274
Rydz (2013) Am J Hematol 88:1030
Becker (1996) Am J Hum Genet 58:657
Nance (2013) Haemophilia 19:720
Santacroce (2008) J Hum Genet 53:275
Keeling (1999) Br J Haematol 105:1123
Halldén (2012) J Thromb Haemost 10:2503
Dai (2012) Haemophilia 18:235
Fernandez‐Lopez (2005) Haematologica 90:707
Cutler (2002) F8 LSDB entry Unpublished:.
Markoff (2009) Haemophilia 15:932
Lannoy (2012) Haemophilia 18:e331
Bogdanova (2005) Hum Mutat 26:249
Guillet (2006) Hum Mutat 27:676
Gallardo (2001) F8 LSDB entry Unpublished:
Schwaab (1995) Br J Haematol 91:458
Guillet (2006) Hum Mutat 27:676
Colvin (1996) F8 LSDB entry Meeting abstract:
Habart (2003) J Thromb Haemost 1:773
Schwaab (1995) Br J Haematol 91:458
Cutler (2002) F8 LSDB entry Unpublished:.
Markoff (2009) Haemophilia 15:932
Liu (2002) Thromb Haemost 87:273
Gallardo (2008) F8 LSDB entry Unpublished:.
Liu (1998) Br J Haematol 103:1051
Sanchez‐Vega (2001) F8 LSDB entry Unpublished:
Naylor (1993) Hum Mol Genet 2:11
PubMed 19473423
PubMed 18217193
PubMed 18691168
PubMed 20431853
PubMed 12195713
PubMed 18217193
PubMed 22960877
PubMed 18481121
PubMed 8759905
PubMed 16879218
PubMed 2104741
PubMed 1301194
PubMed 21910785
PubMed 3097553
PubMed 17550859
PubMed 15921397
PubMed 8307558
PubMed 15682412
PubMed 18691168
PubMed 18691168
PubMed 11298607
PubMed 12325022
PubMed 9029040
PubMed 15810915
PubMed 19473423
PubMed 8054459
PubMed 11857744
PubMed 23913812
PubMed 8644728
PubMed 23711294
PubMed 18217193
PubMed 10554831
PubMed 23020595
PubMed 21910785
PubMed 15921397
Source: LSDB
PubMed 19473423
PubMed 21883705
PubMed 16086318
PubMed 16786531
Source: LSDB
PubMed 8547094
PubMed 16786531
Source: LSDB
PubMed 12871415
PubMed 8547094
Source: LSDB
PubMed 19473423
PubMed 11858487
Source: LSDB
PubMed 9886318
Source: LSDB
PubMed 8490618
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM105305
CM105302
CM1212753
HM060009
CM055217
CM0910958
CM020430
CM025253
CM145560
CM108722
CM003815
CM098265
CM100253
CM080255
CM103956
CM014187
CM062635
CM123917
CM930234
CM980709
CM1310614
CM073055
CM080341
CM025255
CM020132
CM055194
CM082650
CM055195
CM010877
CM910144
CM0910959
CM010878
CM106052
CM103771
CM980710
CM070100
CM983915
CM123984
CM062644
CM980711
CM990560
CM1314180
CM080314
CM108723
CM011333
CM121372
CM950416
CM055214
CM010879
CM990561
CM053876
CM123918
CM001994
AAA‐ATA
ATG‐ATA
GCA‐ACA
CTG‐CCG
TAC‐TAA
CTC‐TTC
TAT‐TGT
TAT‐TCT
CCA‐CGA
CCA‐CTA
GGT‐GCT
GGT‐CGT
GGT‐GAT
GGT‐AGT
GGT‐GTT
ACA‐AGA
ACA‐ATA
GAA‐AAA
GAA‐TAA
ATG‐ATA
TCC‐CCC
GGA‐AGA
TGG‐CGG
TGG‐TGC
TGG‐TGT
CGG‐CAG
CGG‐GGG
CGG‐CTG
CGG‐CCG
CGG‐TGG
GTG‐ATG
GAA‐GGA
TGC‐CGC
TGC‐GGC
GGC‐GAC
GAG‐AAG
GGG‐AGG
GGG‐TGG
ATG‐ATT
AGC‐AAC
GTG‐GCG
GTG‐GAG
GTG‐GGG
GTG‐ATG
TAC‐TGC
TAC‐TAG
AAT‐AGT
TGT‐GGT
TGT‐TGA
TGT‐TAT
CTG‐CCG
GGA‐AGA
GGA‐GAA
Lys1986Ile
Met1992Ile
Ala1993Thr
Leu1994Pro
Tyr1995Term
Leu1997Phe
Tyr1998Cys
Tyr1998Ser
Pro1999Arg
Pro1999Leu
Gly2000Ala
Gly2000Arg
Gly2000Asp
Gly2000Ser
Gly2000Val
Thr2004Arg
Thr2004Ile
Glu2006Lys
Glu2006Term
Met2007Ile
Ser2010Pro
Gly2013Arg
Trp2015Arg
Trp2015Cys
Trp2015Cys
Arg2016Gln
Arg2016Gly
Arg2016Leu
Arg2016Pro
Arg2016Trp
Val2017Met
Glu2018Gly
Cys2019Arg
Cys2019Gly
Gly2022Asp
Glu2023Lys
Gly2028Arg
Gly2028Trp
Met2029Ile
Ser2030Asn
Val2035Ala
Val2035Glu
Val2035Gly
Val2035Met
Tyr2036Cys
Tyr2036Term
Asn2038Ser
Cys2040Gly
Cys2040Term
Cys2040Tyr
Leu2044Pro
Gly2045Arg
Gly2045Glu
5957A>T
5976G>A
5977G>A
5981T>C
5985C>A
5989C>T
5993A>G
5993A>C
5996C>G
5996C>T
5999G>C
5998G>C
5999G>A
5998G>A
5999G>T
6011C>G
6011C>T
6016G>A
6016G>T
6021G>A
6028T>C
6037G>A
6043T>C
6045G>C
6045G>T
6047G>A
6046C>G
6047G>T
6047G>C
6046C>T
6049G>A
6053A>G
6055T>C
6055T>G
6065G>A
6067G>A
6082G>A
6082G>T
6087G>T
6089G>A
6104T>C
6104T>A
6104T>G
6103G>A
6107A>G
6108C>G
6113A>G
6118T>G
6120T>A
6119G>A
6131T>C
6133G>A
6134G>A
K1986I
M1992I
A1993T
L1994P
Y1995*
L1997F
Y1998C
Y1998S
P1999R
P1999L
G2000A
G2000R
G2000D
G2000S
G2000V
T2004R
T2004I
E2006K
E2006*
M2007I
S2010P
G2013R
W2015R
W2015C
W2015C
R2016Q
R2016G
R2016L
R2016P
R2016W
V2017M
E2018G
C2019R
C2019G
G2022D
E2023K
G2028R
G2028W
M2029I
S2030N
V2035A
V2035E
V2035G
V2035M
Y2036C
Y2036*
N2038S
C2040G
C2040*
C2040Y
L2044P
G2045R
G2045E
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Riccardi (2010) Haemophilia 16:791
Riccardi (2010) Haemophilia 16:791
Halldén (2012) J Thromb Haemost 10:2503
Hongli (2006) Hum Genet 119:677
Ahmed (2005) Haematologica 90:283
Markoff (2009) Haemophilia 15:932
Cutler (2002) Hum Mutat 19:274
Cutler (2002) F8 LSDB entry Unpublished:.
Nair (2014) PLoS One 9:e97337
Reitter (2010) Thromb Haemost 104:78
Goodeve (2000) Thromb Haemost 83:844
Jayandharan (2009) Haemophilia 15:1228
Awidi (2010) Haemophilia 16:136
Santacroce (2008) J Hum Genet 53:275
You (2010) Int J Hematol 91:784
Theophilus (2001) Haemophilia 7:381
Guillet (2006) Hum Mutat 27:676
Miller (2012) Haemophilia 18:375
Naylor (1993) Hum Mol Genet 2:11
Liu (1998) Br J Haematol 103:1051
Schwaab (2013) Thromb Haemost 109:464
Repesse (2007) J Thromb Haemost 5:1469
Santacroce (2008) J Hum Genet 53:275
Lillicrap (2002) F8 LSDB entry Unpublished:.
Liu (2002) Thromb Haemost 87:273
Gallardo (2005) F8 LSDB entry Unpublished:.
Ma (2008) Haemophilia 14:787
Gallardo (2005) F8 LSDB entry Unpublished:.
Vidal (2001) Thromb Haemost 85:580
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Markoff (2009) Haemophilia 15:932
Hill (2005) Haemophilia 11:133
Wang (2010) Haemophilia 16:632
Xue (2010) Eur J Haematol 85:264
Liu (1998) Br J Haematol 103:1051
Bogdanova (2007) Hum Mutat 28:54
Hay (1998) Thromb Haemost 79:762
Lannoy (2012) Haemophilia 18:e331
Guillet (2006) Hum Mutat 27:676
Liu (1998) Br J Haematol 103:1051
Waseem (1999) Thromb Haemost 81:900
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Reitter (2010) Thromb Haemost 104:78
Ivaskevicius (2001) Br J Haematol 112:1062
Dai (2012) Haemophilia 18:235
Schwaab (1995) Br J Haematol 91:458
Gallardo (2005) F8 LSDB entry Unpublished:.
Timur (2001) Haemophilia 7:475
Waseem (1999) Thromb Haemost 81:900
Boekhorst (2005) Br J Haematol 131:109
Miller (2012) Haemophilia 18:375
Liu (2000) Blood 96:979
PubMed 20331761
PubMed 20331761
PubMed 23020595
Source: Online submission
PubMed 15710596
PubMed 19473423
PubMed 11857744
Source: LSDB
PubMed 24845853
PubMed 20431853
PubMed 10896236
PubMed 19686262
PubMed 19817879
PubMed 18217193
PubMed 20533009
PubMed 11442643
PubMed 16786531
PubMed 22103590
PubMed 8490618
PubMed 9886318
PubMed 23306409
PubMed 17445092
PubMed 18217193
Source: LSDB
PubMed 11858487
Source: LSDB
PubMed 18371163
Source: LSDB
PubMed 11341489
PubMed 1924291
PubMed 19473423
PubMed 15810915
PubMed 20331753
PubMed 20528906
PubMed 9886318
PubMed 16972227
PubMed 9569189
PubMed 21883705
PubMed 16786531
PubMed 9886318
PubMed 10404764
PubMed 23913812
PubMed 18217193
PubMed 20431853
PubMed 11298607
PubMed 21910785
PubMed 8547094
Source: LSDB
PubMed 11554935
PubMed 10404764
PubMed 16173970
PubMed 22103590
PubMed 10910913
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM081256
CM980712
CM062667
CM080271
CM031987
CM123848
CM020431
CM001995
CM1212754
CM0910960
CM0911122
CM920264
CM123989
CM960565
CM025250
CM012946
CM062673
CM020432
CM1314181
CM053245
CM062637
CM020433
CM1314122
CM010880
CM123919
CM094287
CM055207
CM123991
CM067386
CM061758
CM129745
CM088372
CM020434
CM145611
CM057439
CM020133
CM001996
CM080336
CM1314182
CM055229
CM111359
CM055185
CM062662
CM0911128
CM055211
CM950417
CM014188
CM1314183
HM070054
CM1314123
CM129828
CM080261
CM980713
GGA‐TGA
GGA‐GTA
GCT‐GGT
ATT‐TTT
ATT‐AGT
CAG‐TAG
ATT‐AAT
GCT‐CCT
GGA‐CGA
GGA‐GTA
GGA‐AGA
TGG‐CGG
TGG‐TGC
TGG‐TAG
GCC‐GTC
CCA‐CTA
GCC‐ACC
GCC‐GTC
AGA‐GGA
AGA‐AGT
CTT‐TTT
GGA‐TGA
GGA‐GTA
TCA‐TGA
GCC‐GAC
GCC‐ACC
GCC‐GTC
TGG‐CGG
TGG‐TGC
TGG‐TCG
TGG‐TAG
TGG‐TGA
AGC‐AAC
AGC‐ACC
AAG‐TAG
GAG‐TAG
TCT‐TTT
TGG‐TGT
TGG‐TTG
TGG‐TAG
TGG‐TGA
ATC‐AAC
ATC‐CTC
ATC‐ACC
GTG‐ATG
GAT‐GGT
GAT‐TAT
ATT‐AAT
CAC‐GAC
GGC‐GAC
GGC‐AGC
AAG‐TAG
ACC‐AAC
Gly2045Term
Gly2045Val
Ala2047Gly
Ile2051Phe
Ile2051Ser
Gln2055Term
Ile2056Asn
Ala2058Pro
Gly2060Arg
Gly2060Val
Gly2063Arg
Trp2065Arg
Trp2065Cys
Trp2065Term
Ala2066Val
Pro2067Leu
Ala2070Thr
Ala2070Val
Arg2071Gly
Arg2071Ser
Leu2072Phe
Gly2076Term
Gly2076Val
Ser2077Term
Ala2080Asp
Ala2080Thr
Ala2080Val
Trp2081Arg
Trp2081Cys
Trp2081Ser
Trp2081Term
Trp2081Term
Ser2082Asn
Ser2082Thr
Lys2084Term
Glu2085Term
Ser2088Phe
Trp2089Cys
Trp2089Leu
Trp2089Term
Trp2089Term
Ile2090Asn
Ile2090Leu
Ile2090Thr
Val2092Met
Asp2093Gly
Asp2093Tyr
Ile2099Asn
His2101Asp
Gly2102Asp
Gly2102Ser
Lys2104Term
Thr2105Asn
6133G>T
6134G>T
6140C>G
6151A>T
6152T>G
6163C>T
6167T>A
6172G>C
6178G>C
6179G>T
6187G>A
6193T>C
6195G>C
6194G>A
6197C>T
6200C>T
6208G>A
6209C>T
6211A>G
6213A>T
6214C>T
6226G>T
6227G>T
6230C>G
6239C>A
6238G>A
6239C>T
6241T>C
6243G>C
6242G>C
6242G>A
6243G>A
6245G>A
6245G>C
6250A>T
6253G>T
6263C>T
6267G>T
6266G>T
6266G>A
6267G>A
6269T>A
6268A>C
6269T>C
6274G>A
6278A>G
6277G>T
6296T>A
6301C>G
6305G>A
6304G>A
6310A>T
6314C>A
G2045*
G2045V
A2047G
I2051F
I2051S
Q2055*
I2056N
A2058P
G2060R
G2060V
G2063R
W2065R
W2065C
W2065*
A2066V
P2067L
A2070T
A2070V
R2071G
R2071S
L2072F
G2076*
G2076V
S2077*
A2080D
A2080T
A2080V
W2081R
W2081C
W2081S
W2081*
W2081*
S2082N
S2082T
K2084*
E2085*
S2088F
W2089C
W2089L
W2089*
W2089*
I2090N
I2090L
I2090T
V2092M
D2093G
D2093Y
I2099N
H2101D
G2102D
G2102S
K2104*
T2105N
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Vencesla (2008) Blood 111:3468
Williams (1998) Thromb Haemost 79:723
Guillet (2006) Hum Mutat 27:676
Santacroce (2008) J Hum Genet 53:275
Bicocchi (2003) Br J Haematol 122:810
Miller (2012) Haemophilia 18:375
Cutler (2002) Hum Mutat 19:274
Liu (2000) Blood 96:979
Halldén (2012) J Thromb Haemost 10:2503
Markoff (2009) Haemophilia 15:932
Ravanbod (2009) J Thromb Haemost 7S2:1117
Diamond (1992) Hum Mutat 1:248
Lannoy (2012) Haemophilia 18:e331
Chan (1996) Br J Haematol 93:451
Cutler (2002) F8 LSDB entry Unpublished:.
Leuer (2001) Am J Hum Genet 69:75
Guillet (2006) Hum Mutat 27:676
Cutler (2002) Hum Mutat 19:274
Rydz (2013) Am J Hematol 88:1030
Bogdanova (2005) Hum Mutat 26:249
Guillet (2006) Hum Mutat 27:676
Cutler (2002) Hum Mutat 19:274
Rydz (2013) Am J Hematol 88:1030
Ljung (2001) F8 LSDB entry Unpublished:
Miller (2012) Haemophilia 18:375
Sirocova (2009) Haemophilia 15:942
Lillicrap (2005) F8 LSDB entry Unpublished:.
Lannoy (2012) Haemophilia 18:e331
David (2006) Haematologica 91:840
Vinciguerra (2006) Thromb Haemost 95:593
Kim (2012) Haemophilia 18:1008
Casaña (2008) Haematologica 93:1091
Cutler (2002) Hum Mutat 19:274
Nair (2014) PLoS One 9:e97337
Fernandez‐Lopez (2005) Haematologica 90:707
Liu (2002) Thromb Haemost 87:273
Liu (2000) Blood 96:979
Santacroce (2008) J Hum Genet 53:275
Rydz (2013) Am J Hematol 88:1030
Fernandez‐Lopez (2005) Haematologica 90:707
Gouw (2011) Haemophilia 17:275
Ahmed (2005) Haematologica 90:283
Guillet (2006) Hum Mutat 27:676
Ravanbod (2009) J Thromb Haemost 7S2:1117
Casey (2005) F8 LSDB entry Unpublished:.
Schwaab (1995) Br J Haematol 91:458
Theophilus (2001) Haemophilia 7:381
Rydz (2013) Am J Hematol 88:1030
Garcia‐Lozano (2007) Hum Genet 122:419
Rydz (2013) Am J Hematol 88:1030
Debeljak (2012) Haemophilia 18:e420
Santacroce (2008) J Hum Genet 53:275
Freson (1998) Hum Mutat 11:470
PubMed 18184865
PubMed 9569180
PubMed 16786531
PubMed 18217193
PubMed 12930394
PubMed 22103590
PubMed 11857744
PubMed 10910913
PubMed 23020595
PubMed 19473423
PubMed: No PubMed ID
PubMed 1301932
PubMed 21883705
PubMed 8639447
Source: LSDB
PubMed 11410838
PubMed 16786531
PubMed 11857744
PubMed 23913812
PubMed 16086318
PubMed 16786531
PubMed 11857744
PubMed 23913812
Source: LSDB
PubMed 22103590
PubMed 19473408
Source: LSDB
PubMed 21883705
PubMed 16769589
PubMed 16601827
PubMed 22741565
PubMed 18403393
PubMed 11857744
PubMed 24845853
PubMed 15921397
PubMed 11858487
PubMed 10910913
PubMed 18217193
PubMed 23913812
PubMed 15921397
PubMed 21070499
PubMed 15710596
PubMed 16786531
PubMed: No PubMed ID
Source: LSDB
PubMed 8547094
PubMed 11442643
PubMed 23913812
Source: Online submission
PubMed 23913812
PubMed 22958177
PubMed 18217193
PubMed 9603440
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM062636
CM970478
CM001997
CM136359
CM073041
CM108724
CM080306
CM980714
CM001998
CM108725
CM022357
CM001999
CM025254
CM105303
CM950418
CM123920
CM1314197
CM990562
CM910145
CM0911129
CM930235
CM080256
CM010881
CM003422
CM015873
CM123921
CM870007
CM860008
CM096963
CM082651
CM083820
CM910146
CM092070
CM108726
CM031988
CM055238
CM083807
CM081246
CM990563
CM070114
CM080343
CM102438
CM108727
CM103772
CM980715
CM1314184
CM145900
CM073046
CM138653
CM129746
CM070094
CM055165
CM020435
ACC‐ATC
CAG‐CGG
CAG‐GAG
CAG‐CAC
CAG‐CCG
CAG‐TAG
GGT‐GAT
GGT‐AGT
CGT‐TGT
CTC‐CCC
ATC‐TTC
ATC‐AGC
TCT‐TTT
TCT‐CCT
CAG‐CGG
CAG‐GAG
CAG‐TAG
TTT‐TGT
TTT‐TTG
ATC‐AAC
TAT‐TGT
AGT‐ACT
AAG‐TAG
TGG‐TGA
CAG‐TAG
CGA‐GGA
CGA‐CCA
CGA‐TGA
GGA‐AGA
GGA‐GAA
TCC‐TTC
TCC‐TAC
GGA‐GAA
GGA‐TGA
ACC‐AAC
TTA‐TAA
ATG‐ACG
ATG‐GTG
TTC‐TGC
TTC‐TCC
TTT‐TCT
GGC‐GAC
GGC‐AGC
AAT‐GAT
AAT‐AGT
GAT‐GCT
GAT‐AAT
GAT‐GTT
TCA‐TTA
TCA‐TGA
TCT‐CCT
AAA‐GAA
AAT‐GAT
Thr2105Ile
Gln2106Arg
Gln2106Glu
Gln2106His
Gln2106Pro
Gln2106Term
Gly2107Asp
Gly2107Ser
Arg2109Cys
Leu2115Pro
Ile2117Phe
Ile2117Ser
Ser2118Phe
Ser2118Pro
Gln2119Arg
Gln2119Glu
Gln2119Term
Phe2120Cys
Phe2120Leu
Ile2121Asn
Tyr2124Cys
Ser2125Thr
Lys2129Term
Trp2131Term
Gln2132Term
Arg2135Gly
Arg2135Pro
Arg2135Term
Gly2136Arg
Gly2136Glu
Ser2138Phe
Ser2138Tyr
Gly2140Glu
Gly2140Term
Thr2141Asn
Leu2142Term
Met2143Thr
Met2143Val
Phe2145Cys
Phe2145Ser
Phe2146Ser
Gly2147Asp
Gly2147Ser
Asn2148Asp
Asn2148Ser
Asp2150Ala
Asp2150Asn
Asp2150Val
Ser2151Leu
Ser2151Term
Ser2152Pro
Lys2155Glu
Asn2157Asp
6314C>T
6317A>G
6316C>G
6318G>C
6317A>C
6316C>T
6320G>A
6319G>A
6325C>T
6344T>C
6349A>T
6350T>G
6353C>T
6352T>C
6356A>G
6355C>G
6355C>T
6359T>G
6360T>G
6362T>A
6371A>G
6374G>C
6385A>T
6393G>A
6394C>T
6403C>G
6404G>C
6403C>T
6406G>A
6407G>A
6413C>T
6413C>A
6419G>A
6418G>T
6422C>A
6425T>A
6428T>C
6427A>G
6434T>G
6434T>C
6437T>C
6440G>A
6439G>A
6442A>G
6443A>G
6449A>C
6448G>A
6449A>T
6452C>T
6452C>G
6454T>C
6463A>G
6469A>G
T2105I
Q2106R
Q2106E
Q2106H
Q2106P
Q2106*
G2107D
G2107S
R2109C
L2115P
I2117F
I2117S
S2118F
S2118P
Q2119R
Q2119E
Q2119*
F2120C
F2120L
I2121N
Y2124C
S2125T
K2129*
W2131*
Q2132*
R2135G
R2135P
R2135*
G2136R
G2136E
S2138F
S2138Y
G2140E
G2140*
T2141N
L2142*
M2143T
M2143V
F2145C
F2145S
F2146S
G2147D
G2147S
N2148D
N2148S
D2150A
D2150N
D2150V
S2151L
S2151*
S2152P
K2155E
N2157D
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Guillet (2006) Hum Mutat 27:676
Tavassoli (1997) Hum Genet 100:508
Liu (2000) Blood 96:979
Inaba (2013) Int J Hematol 97:758
Laurie (2007) Haemophilia 13:420
Reitter (2010) Thromb Haemost 104:78
Santacroce (2008) J Hum Genet 53:275
Tavassoli (1998) Hum Mutat S1:S260
Liu (2000) Blood 96:979
Reitter (2010) Thromb Haemost 104:78
Citron (2002) Hum Mutat 20:267
Jacquemin (2000) Blood 96:958
Cutler (2002) F8 LSDB entry Unpublished:.
Riccardi (2010) Haemophilia 16:791
Pieneman (1995) Br J Haematol 90:442
Miller (2012) Haemophilia 18:375
Rydz (2013) Am J Hematol 88:1030
Waseem (1999) Thromb Haemost 81:900
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Ravanbod (2009) J Thromb Haemost 7S2:1117
Naylor (1993) Hum Mol Genet 2:11
Santacroce (2008) J Hum Genet 53:275
Vidal (2001) Thromb Haemost 85:580
Liu (2000) Blood 96:979
Timur (2001) Haemophilia 7:475
Miller (2012) Haemophilia 18:375
Levinson (1987) Nucleic Acids Res 15:9797
Youssoufian (1986) Nature 324:380
Hwang (2009) Haemophilia 15:1311
Djambas Khayat (2008) Haemophilia 14:709
Green (2008) Br J Haematol 143:115
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Viel (2009) N Engl J Med 360:1618
Reitter (2010) Thromb Haemost 104:78
Bicocchi (2003) Br J Haematol 122:810
Lillicrap (2005) F8 LSDB entry Unpublished:.
Gallardo (2008) F8 LSDB entry Unpublished:.
Vencesla (2008) Blood 111:3468
Waseem (1999) Thromb Haemost 81:900
Bogdanova (2007) Hum Mutat 28:54
Santacroce (2008) J Hum Genet 53:275
Chen (2010) Haemophilia 16:538
Reitter (2010) Thromb Haemost 104:78
Xue (2010) Eur J Haematol 85:264
Tavassoli (1998) Hum Mutat 12:301
Rydz (2013) Am J Hematol 88:1030
Pavlova (2014) Thromb Haemost 111:851
Laurie (2007) Haemophilia 13:420
Nance (2013) Haemophilia 19:720
Kim (2012) Haemophilia 18:1008
Bogdanova (2007) Hum Mutat 28:54
Gallardo (2005) F8 LSDB entry Unpublished:.
Cutler (2002) Hum Mutat 19:274
PubMed 16786531
PubMed 9341862
PubMed 10910913
PubMed 23625609
PubMed 17610560
PubMed 20431853
PubMed 18217193
PubMed 9452104
PubMed 10910913
PubMed 20431853
PubMed 12325022
PubMed 10910910
Source: LSDB
PubMed 20331761
PubMed 7794769
PubMed 22103590
PubMed 23913812
PubMed 10404764
PubMed 1924291
PubMed: No PubMed ID
PubMed 8490618
PubMed 18217193
PubMed 11341489
PubMed 10910913
PubMed 11554935
PubMed 22103590
PubMed 3122181
PubMed 3097553
PubMed 19719548
PubMed 18479430
PubMed 18691168
PubMed 1924291
PubMed 19369668
PubMed 20431853
PubMed 12930394
Source: LSDB
Source: LSDB
PubMed 18184865
PubMed 10404764
PubMed 16972227
PubMed 18217193
PubMed 20236351
PubMed 20431853
PubMed 20528906
PubMed 9792405
PubMed 23913812
PubMed 24452774
PubMed 17610560
PubMed 23711294
PubMed 22741565
PubMed 16972227
Source: LSDB
PubMed 11857744
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM1314185
CM083811
CM123922
CM083810
CM053874
CM061737
CM123923
CM054677
CM870008
CM002000
CM910147
CM070101
CM106053
CM0911123
CM011334
CM950419
CM081248
CM020436
CM070091
CM920265
CM034810
CM129829
CM073051
CM053870
CM910148
CM950420
CM950421
CM055180
CM0911125
CM0911126
CM061743
CM002001
CM061754
CM940403
CM111360
CM015870
CM002002
CM980716
CM123924
CM129922
CM103773
CM108728
CM057445
CM900097
CM022358
CM105306
CM080304
CM054683
CM055239
CM002003
CM025258
CM111361
CM057071
CCT‐CAT
CCT‐CTT
CCT‐TCT
CCT‐ACT
CCA‐CTA
ATT‐AGT
GCT‐GTT
CGA‐GGA
CGA‐TGA
CGT‐TGT
CGT‐CAT
CGT‐CTT
CAC‐CGC
CAC‐TAC
CCA‐CGA
CCA‐CAA
CCA‐CTA
ACT‐GCT
ACT‐AAT
ACT‐ATT
CAT‐GAT
CAT‐CTT
CAT‐TAT
AGC‐AGG
CGC‐TGC
CGC‐CAC
CGC‐CTC
AGC‐AGG
ACT‐AAT
CTT‐TTT
CTT‐CCT
CGC‐TGC
CGC‐GGC
CGC‐CAC
CGC‐CTC
CGC‐CCC
ATG‐AGG
ATG‐GTG
GAG‐GCG
GAG‐CAG
GAG‐AAG
GAG‐TAG
GAG‐GTG
TTG‐TCG
TTG‐TGG
ATG‐AAG
GGC‐GAC
TGT‐TAT
TTA‐GTA
AGT‐ATT
TGC‐GGC
TGC‐TAC
TTG‐TAG
Pro2161His
Pro2161Leu
Pro2161Ser
Pro2161Thr
Pro2162Leu
Ile2163Ser
Ala2165Val
Arg2166Gly
Arg2166Term
Arg2169Cys
Arg2169His
Arg2169Leu
His2171Arg
His2171Tyr
Pro2172Arg
Pro2172Gln
Pro2172Leu
Thr2173Ala
Thr2173Asn
Thr2173Ile
His2174Asp
His2174Leu
His2174Tyr
Ser2176Arg
Arg2178Cys
Arg2178His
Arg2178Leu
Ser2179Arg
Thr2180Asn
Leu2181Phe
Leu2181Pro
Arg2182Cys
Arg2182Gly
Arg2182His
Arg2182Leu
Arg2182Pro
Met2183Arg
Met2183Val
Glu2184Ala
Glu2184Gln
Glu2184Lys
Glu2184Term
Glu2184Val
Leu2185Ser
Leu2185Trp
Met2186Lys
Gly2187Asp
Cys2188Tyr
Leu2190Val
Ser2192Ile
Cys2193Gly
Cys2193Tyr
Leu2197Term
6482C>A
6482C>T
6481C>T
6481C>A
6485C>T
6488T>G
6494C>T
6496C>G
6496C>T
6505C>T
6506G>A
6506G>T
6512A>G
6511C>T
6515C>G
6515C>A
6515C>T
6517A>G
6518C>A
6518C>T
6520C>G
6521A>T
6520C>T
6528C>G
6532C>T
6533G>A
6533G>T
6537C>G
6539C>A
6541C>T
6542T>C
6544C>T
6544C>G
6545G>A
6545G>T
6545G>C
6548T>G
6547A>G
6551A>C
6550G>C
6550G>A
6550G>T
6551A>T
6554T>C
6554T>G
6557T>A
6560G>A
6563G>A
6568T>G
6575G>T
6577T>G
6578G>A
6590T>A
P2161H
P2161L
P2161S
P2161T
P2162L
I2163S
A2165V
R2166G
R2166*
R2169C
R2169H
R2169L
H2171R
H2171Y
P2172R
P2172Q
P2172L
T2173A
T2173N
T2173I
H2174D
H2174L
H2174Y
S2176R
R2178C
R2178H
R2178L
S2179R
T2180N
L2181F
L2181P
R2182C
R2182G
R2182H
R2182L
R2182P
M2183R
M2183V
E2184A
E2184Q
E2184K
E2184*
E2184V
L2185S
L2185W
M2186K
G2187D
C2188Y
L2190V
S2192I
C2193G
C2193Y
L2197*
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Rydz (2013) Am J Hematol 88:1030
Green (2008) Br J Haematol 143:115
Miller (2012) Haemophilia 18:375
Green (2008) Br J Haematol 143:115
Boekhorst (2005) Br J Haematol 131:109
Vinciguerra (2006) Thromb Haemost 95:593
Miller (2012) Haemophilia 18:375
Jayandharan (2005) Haemophilia 11:481
Levinson (1987) Nucleic Acids Res 15:9797
Liu (2000) Blood 96:979
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Bogdanova (2007) Hum Mutat 28:54
Wang (2010) Haemophilia 16:632
Ravanbod (2009) J Thromb Haemost 7S2:1117
Ivaskevicius (2001) Br J Haematol 112:1062
Schwaab (1995) Br J Haematol 91:458
Vencesla (2008) Blood 111:3468
Cutler (2002) Hum Mutat 19:274
Bogdanova (2007) Hum Mutat 28:54
Jonsdottir (1992) Hum Mutat 1:506
Habart (2003) J Thromb Haemost 1:773
Debeljak (2012) Haemophilia 18:e420
Repesse (2007) J Thromb Haemost 5:1469
Boekhorst (2005) Br J Haematol 131:109
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Schwaab (1995) Br J Haematol 91:458
Schwaab (1995) Br J Haematol 91:458
Ahmed (2005) Haematologica 90:283
Ravanbod (2009) J Thromb Haemost 7S2:1117
Ravanbod (2009) J Thromb Haemost 7S2:1117
Vinciguerra (2006) Thromb Haemost 95:593
Liu (2000) Blood 96:979
Vinciguerra (2006) Thromb Haemost 95:593
Tuddenham (1994) Nucleic Acids Res 22:3511
Gouw (2011) Haemophilia 17:275
Timur (2001) Haemophilia 7:475
Liu (2000) Blood 96:979
Tavassoli (1998) Hum Mutat 12:301
Miller (2012) Haemophilia 18:375
Debeljak (2012) Haemophilia 18:e420
Xue (2010) Eur J Haematol 85:264
Reitter (2010) Thromb Haemost 104:78
Fernandez‐Lopez (2005) Haematologica 90:707
Levinson (1990) Am J Hum Genet 46:53
Citron (2002) Hum Mutat 20:267
Riccardi (2010) Haemophilia 16:791
Santacroce (2008) J Hum Genet 53:275
Jayandharan (2005) Haemophilia 11:481
Gallardo (2005) F8 LSDB entry Unpublished:.
Liu (2000) Blood 96:979
Sukarova‐Stefanovska (2002) Haemophilia 8:715
Gouw (2011) Haemophilia 17:275
Astermark (2005) Haematologica 90:924
PubMed 23913812
PubMed 18691168
PubMed 22103590
PubMed 18691168
PubMed 16173970
PubMed 16601827
PubMed 22103590
PubMed 16128892
PubMed 3122181
PubMed 10910913
PubMed 1908096
PubMed 16972227
PubMed 20331753
PubMed: No PubMed ID
PubMed 11298607
PubMed 8547094
PubMed 18184865
PubMed 11857744
PubMed 16972227
PubMed 1301960
PubMed 12871415
PubMed 22958177
PubMed 17445092
PubMed 16173970
PubMed 1924291
PubMed 8547094
PubMed 8547094
PubMed 15710596
PubMed: No PubMed ID
PubMed: No PubMed ID
PubMed 16601827
PubMed 10910913
PubMed 16601827
PubMed 7937051
PubMed 21070499
PubMed 11554935
PubMed 10910913
PubMed 9792405
PubMed 22103590
PubMed 22958177
PubMed 20528906
PubMed 20431853
PubMed 15921397
PubMed 2104741
PubMed 12325022
PubMed 20331761
PubMed 18217193
PubMed 16128892
Source: LSDB
PubMed 10910913
PubMed 12199686
PubMed 21070499
PubMed 15996930
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM145613
CM025252
CM080301
CM990564
CM002004
CM062640
CM123925
CM980717
CM145565
CM055190
CM055172
CM074781
CM106054
CM980718
CM930236
CM129830
CM080329
CM062684
CM080258
CM083819
CM080319
CM002005
CM003423
CM123849
CM1313584
CM022359
CM123850
CM0911134
CM0911124
CM083813
CM880027
CM002006
CM910149
CM003816
CM850003
CM034811
CM025248
CM0911137
CM055191
CM073054
CM1314186
CM123926
CM034812
CM123927
CM125453
CM990565
CM002007
CM111362
CM126255
CM080252
CM073040
CM080315
CM910150
TTG‐TGG
GGA‐AGA
GGA‐GAA
GGA‐GTA
GAG‐GAT
AGT‐ATT
ATA‐AAA
ATA‐ACA
TCA‐TAA
CAG‐CGG
CAG‐GAG
CAG‐CCG
CAG‐TAG
ATT‐AAT
GCT‐CCT
GCT‐GTT
TCC‐TGC
TCC‐TTC
TCC‐CCC
TCC‐TAC
ATG‐GTG
GCC‐CCC
TGG‐TAG
TGG‐TGA
CCT‐CGT
CCT‐CTT
TCA‐TGA
GCT‐CCT
GCT‐ACT
GCT‐GTT
CGA‐CAA
CGA‐GGA
CGA‐CTA
CGA‐CCA
CGA‐TGA
CTT‐TTT
CTT‐CCT
CAC‐CCC
CAA‐TAA
GCC‐ACC
TGG‐CGG
TGG‐TGC
TGG‐TAG
AGA‐GGA
CCT‐TCT
CAG‐TAG
GTG‐ATG
AAA‐TAA
GAG‐GAC
GAG‐AAG
GAG‐TAG
TGG‐CGG
TGG‐TGT
Leu2197Trp
Gly2198Arg
Gly2198Glu
Gly2198Val
Glu2200Asp
Ser2201Ile
Ile2204Lys
Ile2204Thr
Ser2205Term
Gln2208Arg
Gln2208Glu
Gln2208Pro
Gln2208Term
Ile2209Asn
Ala2211Pro
Ala2211Val
Ser2213Cys
Ser2213Phe
Ser2213Pro
Ser2213Tyr
Met2218Val
Ala2220Pro
Trp2222Term
Trp2222Term
Pro2224Arg
Pro2224Leu
Ser2225Term
Ala2227Pro
Ala2227Thr
Ala2227Val
Arg2228Gln
Arg2228Gly
Arg2228Leu
Arg2228Pro
Arg2228Term
Leu2229Phe
Leu2229Pro
His2230Pro
Gln2232Term
Ala2237Thr
Trp2238Arg
Trp2238Cys
Trp2238Term
Arg2239Gly
Pro2240Ser
Gln2241Term
Val2242Met
Lys2246Term
Glu2247Asp
Glu2247Lys
Glu2247Term
Trp2248Arg
Trp2248Cys
6590T>G
6592G>A
6593G>A
6593G>T
6600G>T
6602G>T
6611T>A
6611T>C
6614C>A
6623A>G
6622C>G
6623A>C
6622C>T
6626T>A
6631G>C
6632C>T
6638C>G
6638C>T
6637T>C
6638C>A
6652A>G
6658G>C
6665G>A
6666G>A
6671C>G
6671C>T
6674C>G
6679G>C
6679G>A
6680C>T
6683G>A
6682C>G
6683G>T
6683G>C
6682C>T
6685C>T
6686T>C
6689A>C
6694C>T
6709G>A
6712T>C
6714G>C
6713G>A
6715A>G
6718C>T
6721C>T
6724G>A
6736A>T
6741G>C
6739G>A
6739G>T
6742T>C
6744G>T
L2197W
G2198R
G2198E
G2198V
E2200D
S2201I
I2204K
I2204T
S2205*
Q2208R
Q2208E
Q2208P
Q2208*
I2209N
A2211P
A2211V
S2213C
S2213F
S2213P
S2213Y
M2218V
A2220P
W2222*
W2222*
P2224R
P2224L
S2225*
A2227P
A2227T
A2227V
R2228Q
R2228G
R2228L
R2228P
R2228*
L2229F
L2229P
H2230P
Q2232*
A2237T
W2238R
W2238C
W2238*
R2239G
P2240S
Q2241*
V2242M
K2246*
E2247D
E2247K
E2247*
W2248R
W2248C
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Nair (2014) PLoS One 9:e97337
Cutler (2002) F8 LSDB entry Unpublished:.
Santacroce (2008) J Hum Genet 53:275
Waseem (1999) Thromb Haemost 81:900
Hay (1998) Thromb Haemost 79:762
Guillet (2006) Hum Mutat 27:676
Miller (2012) Haemophilia 18:375
Tavassoli (1998) Hum Mutat S1:S260
Nair (2014) PLoS One 9:e97337
Fernandez‐Lopez (2005) Haematologica 90:707
Fernandez‐Lopez (2005) Haematologica 90:707
Cid (2007) Haemophilia 13:760
Wang (2010) Haemophilia 16:632
Tavassoli (1998) Hum Mutat 12:301
Lin (1993) Genomics 18:496
Debeljak (2012) Haemophilia 18:e420
Santacroce (2008) J Hum Genet 53:275
Guillet (2006) Hum Mutat 27:676
Santacroce (2008) J Hum Genet 53:275
Green (2008) Br J Haematol 143:115
Santacroce (2008) J Hum Genet 53:275
Liu (2000) Blood 96:979
Liu (2000) Blood 96:979
Miller (2012) Haemophilia 18:375
Gorziza (2013) Blood Coagul Fibrinolysis 24:164
Citron (2002) Hum Mutat 20:267
Miller (2012) Haemophilia 18:375
Ravanbod (2009) J Thromb Haemost 7S2:1117
Ravanbod (2009) J Thromb Haemost 7S2:1117
Green (2008) Br J Haematol 143:115
Youssoufian (1988) Am J Hum Genet 42:718
Liu (2000) Blood 96:979
Millar (1991) Hum Genet 87:607
Goodeve (2000) Thromb Haemost 83:844
Gitschier (1985) Nature 315:427
Habart (2003) J Thromb Haemost 1:773
Cutler (2002) F8 LSDB entry Unpublished:.
Ravanbod (2009) J Thromb Haemost 7S2:1117
Ahmed (2005) Haematologica 90:283
Repesse (2007) J Thromb Haemost 5:1469
Rydz (2013) Am J Hematol 88:1030
Miller (2012) Haemophilia 18:375
Habart (2003) J Thromb Haemost 1:773
Miller (2012) Haemophilia 18:375
Faridi (2012) Haemophilia 18S3:137
Waseem (1999) Thromb Haemost 81:900
Liu (2000) Blood 96:979
Gouw (2011) Haemophilia 17:275
Eckhardt (2012) Haemophilia 18S3:96
Santacroce (2008) J Hum Genet 53:275
Salviato (2007) Haemophilia 13:361
Santacroce (2008) J Hum Genet 53:275
Naylor (1991) Lancet 337:635
PubMed 24845853
Source: LSDB
PubMed 18217193
PubMed 10404764
PubMed 9569189
PubMed 16786531
PubMed 22103590
PubMed 9452104
PubMed 24845853
PubMed 15921397
PubMed 15921397
PubMed 17973853
PubMed 20331753
PubMed 9792405
PubMed 8307558
PubMed 22958177
PubMed 18217193
PubMed 16786531
PubMed 18217193
PubMed 18691168
PubMed 18217193
PubMed 10910913
PubMed 10910913
PubMed 22103590
PubMed 23249616
PubMed 12325022
PubMed 22103590
PubMed: No PubMed ID
PubMed: No PubMed ID
PubMed 18691168
PubMed 2833855
PubMed 10910913
PubMed 1840568
PubMed 10896236
PubMed 2987704
PubMed 12871415
Source: LSDB
PubMed: No PubMed ID
PubMed 15710596
PubMed 17445092
PubMed 23913812
PubMed 22103590
PubMed 12871415
PubMed 22103590
PubMed: No PubMed ID
PubMed 10404764
PubMed 10910913
PubMed 21070499
PubMed: No PubMed ID
PubMed 18217193
PubMed 17610549
PubMed 18217193
PubMed 1671991
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM032897
CM123851
CM124275
CM061742
CM080278
CM055189
CM057446
CM002008
CM022360
CM062695
CM083659
CM950422
CM123928
CM080310
CM080308
CM970479
CM950423
CM067384
CM061748
CM083814
CM123992
CM0910961
CM057435
CM129831
CM123985
CM076181
CM1314124
CM085397
CM980719
CM002009
CM0910962
CM0910963
CM950424
CM1314187
CM083808
CM081252
CM960566
CM103774
CM113252
CM022361
CM141484
CM980720
CM098266
CM055240
CM0910964
CM074161
CM067382
CM111436
CM970480
CM055170
CM011335
CM123929
CM108729
TGG‐TCG
TGG‐TAG
TGG‐TGA
CTG‐CGG
CTG‐CCG
CAA‐CAC
CAA‐TAA
GTG‐GCG
GTG‐GAG
TTC‐TCC
CAG‐TAG
ATG‐GTG
AAA‐GAA
GTC‐GAC
GTA‐GCA
ACT‐GCT
CAG‐CGG
CAG‐AAG
GGA‐AGA
GGA‐GAA
GGA‐GTA
ACC‐CCC
ATG‐AAG
TAT‐AAT
TAT‐CAT
TAT‐TAA
GTG‐GCG
GTG‐GGG
TTC‐TGC
TTC‐ATC
TTC‐TCC
CTC‐CCC
ATC‐ACC
TCC‐TTC
AGT‐CGT
GAT‐GGT
CAG‐TAG
TGG‐CGG
TGG‐TGT
TGG‐TTG
TGG‐TAG
TGG‐TGA
TTT‐TCT
TTT‐GTT
CAG‐CGG
CAG‐TAG
GGA‐AGA
GGA‐GAA
GGA‐GTA
AAT‐AAG
GAC‐GCC
ACA‐ATA
ACA‐CCA
Trp2248Ser
Trp2248Term
Trp2248Term
Leu2249Arg
Leu2249Pro
Gln2250His
Gln2250Term
Val2251Ala
Val2251Glu
Phe2253Ser
Gln2254Term
Met2257Val
Lys2258Glu
Val2259Asp
Val2262Ala
Thr2264Ala
Gln2265Arg
Gln2265Lys
Gly2266Arg
Gly2266Glu
Gly2266Val
Thr2272Pro
Met2274Lys
Tyr2275Asn
Tyr2275His
Tyr2275Term
Val2276Ala
Val2276Gly
Phe2279Cys
Phe2279Ile
Phe2279Ser
Leu2280Pro
Ile2281Thr
Ser2282Phe
Ser2284Arg
Asp2286Gly
Gln2289Term
Trp2290Arg
Trp2290Cys
Trp2290Leu
Trp2290Term
Trp2290Term
Phe2302Ser
Phe2302Val
Gln2303Arg
Gln2303Term
Gly2304Arg
Gly2304Glu
Gly2304Val
Asn2305Lys
Asp2307Ala
Thr2310Ile
Thr2310Pro
6743G>C
6743G>A
6744G>A
6746T>G
6746T>C
6750A>C
6748C>T
6752T>C
6752T>A
6758T>C
6760C>T
6769A>G
6772A>G
6776T>A
6785T>C
6790A>G
6794A>G
6793C>A
6796G>A
6797G>A
6797G>T
6814A>C
6821T>A
6823T>A
6823T>C
6825T>A
6827T>C
6827T>G
6836T>G
6835T>A
6836T>C
6839T>C
6842T>C
6845C>T
6850A>C
6857A>G
6865C>T
6868T>C
6870G>T
6869G>T
6869G>A
6870G>A
6905T>C
6904T>G
6908A>G
6907C>T
6910G>A
6911G>A
6911G>T
6915T>G
6920A>C
6929C>T
6928A>C
W2248S
W2248*
W2248*
L2249R
L2249P
Q2250H
Q2250*
V2251A
V2251E
F2253S
Q2254*
M2257V
K2258E
V2259D
V2262A
T2264A
Q2265R
Q2265K
G2266R
G2266E
G2266V
T2272P
M2274K
Y2275N
Y2275H
Y2275*
V2276A
V2276G
F2279C
F2279I
F2279S
L2280P
I2281T
S2282F
S2284R
D2286G
Q2289*
W2290R
W2290C
W2290L
W2290*
W2290*
F2302S
F2302V
Q2303R
Q2303*
G2304R
G2304E
G2304V
N2305K
D2307A
T2310I
T2310P
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Yenchitsomanus (2003) Haemophilia 9:179
Miller (2012) Haemophilia 18:375
Ravanbod (2012) Haemophilia 18:e340
Vinciguerra (2006) Thromb Haemost 95:593
Santacroce (2008) J Hum Genet 53:275
Gallardo (2005) F8 LSDB entry Unpublished:.
Fernandez‐Lopez (2005) Haematologica 90:707
Liu (2000) Blood 96:979
Citron (2002) Hum Mutat 20:267
Guillet (2006) Hum Mutat 27:676
Green (2008) Br J Haematol 143:115
Arruda (1995) Blood 86:3015
Miller (2012) Haemophilia 18:375
Santacroce (2008) J Hum Genet 53:275
Santacroce (2008) J Hum Genet 53:275
Morichika (1997) Br J Haematol 98:901
Schwaab (1995) Br J Haematol 91:458
David (2006) Haematologica 91:840
Vinciguerra (2006) Thromb Haemost 95:593
Green (2008) Br J Haematol 143:115
Lannoy (2012) Haemophilia 18:e331
Markoff (2009) Haemophilia 15:932
Fernandez‐Lopez (2005) Haematologica 90:707
Debeljak (2012) Haemophilia 18:e420
Lannoy (2012) Haemophilia 18:e331
Rossetti (2007) Haematologica 92:842
Rydz (2013) Am J Hematol 88:1030
Green (2008) Br J Haematol 143:115
Williams (1998) Thromb Haemost 79:723
Hay (1998) Thromb Haemost 79:762
Markoff (2009) Haemophilia 15:932
Markoff (2009) Haemophilia 15:932
Arruda (1995) Blood 86:3015
Rydz (2013) Am J Hematol 88:1030
Green (2008) Br J Haematol 143:115
Vencesla (2008) Blood 111:3468
Becker (1996) Am J Hum Genet 58:657
Xue (2010) Eur J Haematol 85:264
Li (2011) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:127
Citron (2002) Hum Mutat 20:267
Khanum (2014) Haemophilia 20:287
Laprise (1998) Hum Mutat 12:393
Jayandharan (2009) Haemophilia 15:1228
Riccardi (2010) Haemophilia 16:791
Markoff (2009) Haemophilia 15:932
Salviato (2007) Haemophilia 13:361
David (2006) Haematologica 91:840
Gouw (2011) Haemophilia 17:275
Morichika (1997) Br J Haematol 98:901
Berber (2006) J Thromb Haemost 4:1756
Ivaskevicius (2001) Br J Haematol 112:1062
Miller (2012) Haemophilia 18:375
Reitter (2010) Thromb Haemost 104:78
PubMed 12614369
PubMed 22103590
PubMed 22117735
PubMed 16601827
PubMed 18217193
Source: LSDB
PubMed 15921397
PubMed 10910913
PubMed 12325022
PubMed 16786531
PubMed 18691168
PubMed 7579394
PubMed 22103590
PubMed 18217193
PubMed 18217193
PubMed 9326186
PubMed 8547094
PubMed 16769589
PubMed 16601827
PubMed 18691168
PubMed 21883705
PubMed 19473423
PubMed 15921397
PubMed 22958177
PubMed 21883705
PubMed 17550859
PubMed 23913812
PubMed 18691168
PubMed 9569180
PubMed 9569189
PubMed 19473423
PubMed 19473423
PubMed 7579394
PubMed 23913812
PubMed 18691168
PubMed 18184865
PubMed 8644728
PubMed 20528906
PubMed 21462120
PubMed 12325022
PubMed 24118398
PubMed 9829908
PubMed 19686262
PubMed 20331761
PubMed 19473423
PubMed 17610549
PubMed 16769589
PubMed 21070499
PubMed 9326186
PubMed 16879218
PubMed 11298607
PubMed 22103590
PubMed 20431853
www.ngpd.it
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
F8
Elenco mutazioni NGPD
CM061741
CM083812
CM1313585
CM076179
CM145562
CM1314188
CM080273
CM910151
CM910152
CM076182
CM910153
CM002010
CM950425
CM015871
CM062656
CM1211121
CM022362
CM860009
CM990566
CM890047
CM012947
CM850004
CM129832
CM080326
CM053249
CM108730
CM020437
CM0911159
CM010882
CM102439
CM080334
CM054680
CM083821
CM111363
CM081253
CM0910965
CM1314189
CM002011
CM080295
CM066804
CM105563
CM057444
CM070105
CM0910936
CM0910966
CM993337
CM960567
CM0910296
CM034813
CM062689
CM062690
CM022363
CM1212745
CCT‐CAT
AAC‐TAC
CTA‐CGA
CTA‐CCA
GAC‐GAG
CCA‐CTA
CCG‐CGG
CCG‐CTG
CCG‐TCG
TTA‐TCA
CGC‐TGC
CGC‐GGC
CGC‐CAC
CGC‐CTC
TAC‐AAC
TAC‐TAA
TAC‐TAG
CGA‐CAA
CGA‐GGA
CGA‐CTA
CGA‐CCA
CGA‐TGA
ATT‐AAT
CAC‐GAC
CCC‐CTC
CCC‐TCC
CAG‐CCG
CAG‐TAG
TGG‐CGG
TGG‐GGG
TGG‐TCG
TGG‐TAG
TGG‐TGA
CAG‐TAG
ATT‐TTT
AGG‐ATG
AGG‐AGT
AGG‐ACG
AGG‐TGG
GAG‐AAG
GAG‐TAG
CTG‐CCG
GGC‐GCC
GGC‐CGC
GGC‐GAC
GGC‐TGC
GGC‐AGC
TGC‐CGC
TGC‐TCC
TGC‐TGA
TGC‐TGG
TGC‐TAC
GCA‐CCA
Pro2311His
Asn2314Tyr
Leu2316Arg
Leu2316Pro
Asp2317Glu
Pro2318Leu
Pro2319Arg
Pro2319Leu
Pro2319Ser
Leu2320Ser
Arg2323Cys
Arg2323Gly
Arg2323His
Arg2323Leu
Tyr2324Asn
Tyr2324Term
Tyr2324Term
Arg2326Gln
Arg2326Gly
Arg2326Leu
Arg2326Pro
Arg2326Term
Ile2327Asn
His2328Asp
Pro2329Leu
Pro2329Ser
Gln2330Pro
Gln2330Term
Trp2332Arg
Trp2332Gly
Trp2332Ser
Trp2332Term
Trp2332Term
Gln2335Term
Ile2336Phe
Arg2339Met
Arg2339Ser
Arg2339Thr
Arg2339Trp
Glu2341Lys
Glu2341Term
Leu2343Pro
Gly2344Ala
Gly2344Arg
Gly2344Asp
Gly2344Cys
Gly2344Ser
Cys2345Arg
Cys2345Ser
Cys2345Term
Cys2345Trp
Cys2345Tyr
Ala2347Pro
6932C>A
6940A>T
6947T>G
6947T>C
6951C>G
6953C>T
6956C>G
6956C>T
6955C>T
6959T>C
6967C>T
6967C>G
6968G>A
6968G>T
6970T>A
6972C>A
6972C>G
6977G>A
6976C>G
6977G>T
6977G>C
6976C>T
6980T>A
6982C>G
6986C>T
6985C>T
6989A>C
6988C>T
6994T>C
6994T>G
6995G>C
6995G>A
6996G>A
7003C>T
7006A>T
7016G>T
7017G>T
7016G>C
7015A>T
7021G>A
7021G>T
7028T>C
7031G>C
7030G>C
7031G>A
7030G>T
7030G>A
7033T>C
7034G>C
7035C>A
7035C>G
7034G>A
7039G>C
P2311H
N2314Y
L2316R
L2316P
D2317E
P2318L
P2319R
P2319L
P2319S
L2320S
R2323C
R2323G
R2323H
R2323L
Y2324N
Y2324*
Y2324*
R2326Q
R2326G
R2326L
R2326P
R2326*
I2327N
H2328D
P2329L
P2329S
Q2330P
Q2330*
W2332R
W2332G
W2332S
W2332*
W2332*
Q2335*
I2336F
R2339M
R2339S
R2339T
R2339W
E2341K
E2341*
L2343P
G2344A
G2344R
G2344D
G2344C
G2344S
C2345R
C2345S
C2345*
C2345W
C2345Y
A2347P
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Haemophilia A
Loreth (2006) Thromb Haemost 95:747
Green (2008) Br J Haematol 143:115
Gorziza (2013) Blood Coagul Fibrinolysis 24:164
Rossetti (2007) Haematologica 92:842
Nair (2014) PLoS One 9:e97337
Rydz (2013) Am J Hematol 88:1030
Santacroce (2008) J Hum Genet 53:275
Higuchi (1991) Proc Natl Acad Sci U S A 88:8307
Paynton (1991) Hum Genet 87:397
Rossetti (2007) Haematologica 92:842
Higuchi (1991) Proc Natl Acad Sci U S A 88:7405
Liu (2000) Blood 96:979
Schwaab (1995) Br J Haematol 91:458
Timur (2001) Haemophilia 7:475
Guillet (2006) Hum Mutat 27:676
Hussain (2012) SpringerPlus 1:10
Citron (2002) Hum Mutat 20:267
Gitschier (1986) Science 232:1415
Waseem (1999) Thromb Haemost 81:900
Inaba (1989) Hum Genet 81:335
Leuer (2001) Am J Hum Genet 69:75
Gitschier (1985) Nature 315:427
Debeljak (2012) Haemophilia 18:e420
Santacroce (2008) J Hum Genet 53:275
Bogdanova (2005) Hum Mutat 26:249
Reitter (2010) Thromb Haemost 104:78
Cutler (2002) Hum Mutat 19:274
Ravanbod (2009) J Thromb Haemost 7S2:1117
Tagariello (2000) Haematologica 85:525
Chen (2010) Haemophilia 16:538
Santacroce (2008) J Hum Genet 53:275
Jayandharan (2005) Haemophilia 11:481
Green (2008) Br J Haematol 143:115
Gouw (2011) Haemophilia 17:275
Vencesla (2008) Blood 111:3468
Markoff (2009) Haemophilia 15:932
Rydz (2013) Am J Hematol 88:1030
Liu (2000) Blood 96:979
Santacroce (2008) J Hum Genet 53:275
Berber (2006) J Thromb Haemost 4:1756
Nair (2010) Clin Chim Acta 411:2004
Fernandez‐Lopez (2005) Haematologica 90:707
Bogdanova (2007) Hum Mutat 28:54
Markoff (2009) Haemophilia 15:932
Markoff (2009) Haemophilia 15:932
Akkarapatumwong (1999) Hum Mutat 15:117
Becker (1996) Am J Hum Genet 58:657
Abdul‐Ghafar (2009) Haemophilia 16:551
Habart (2003) J Thromb Haemost 1:773
Guillet (2006) Hum Mutat 27:676
Guillet (2006) Hum Mutat 27:676
Citron (2002) Hum Mutat 20:267
Halldén (2012) J Thromb Haemost 10:2503
PubMed 16601852
PubMed 18691168
PubMed 23249616
PubMed 17550859
PubMed 24845853
PubMed 23913812
PubMed 18217193
PubMed 1924291
PubMed 1908817
PubMed 17550859
PubMed 1908096
PubMed 10910913
PubMed 8547094
PubMed 11554935
PubMed 16786531
PubMed: No PubMed ID
PubMed 12325022
PubMed 3012775
PubMed 10404764
PubMed 2495245
PubMed 11410838
PubMed 2987704
PubMed 22958177
PubMed 18217193
PubMed 16086318
PubMed 20431853
PubMed 11857744
PubMed: No PubMed ID
PubMed 10800171
PubMed 20236351
PubMed 18217193
PubMed 16128892
PubMed 18691168
PubMed 21070499
PubMed 18184865
PubMed 19473423
PubMed 23913812
PubMed 10910913
PubMed 18217193
PubMed 16879218
PubMed 20800587
PubMed 15921397
PubMed 16972227
PubMed 19473423
PubMed 19473423
PubMed 10612839
PubMed 8644728
PubMed 20028422
PubMed 12871415
PubMed 16786531
PubMed 16786531
PubMed 12325022
PubMed 23020595
www.ngpd.it
F8
F8
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
FAH
Elenco mutazioni NGPD
CM080280
CM126254
HM050018
CM920266
CM099359
CM940748
CM021989
CM116175
CM119751
CM116176
CM930237
CM1213237
CM147489
CM980724
CM960612
CM119752
CM960613
CM960614
CM108937
CM960615
CM119753
CM108938
CM118919
CM940749
CM950434
CM960616
CM119754
CM960617
CM118920
CM980725
CM940750
CM119755
CM005583
CM960618
CM116174
CM021990
CM119756
CM940751
CM119757
CM940753
CM1213238
CM119758
CM021991
CM930238
CM930239
CM1213239
CM960619
CM127382
CM950435
CM142157
CM129847
CM119759
CM108936
TGA‐CGA
TGA‐TGC
ATG‐GTG
AAC‐ATC
GCC‐ACC
TTC‐TGC
TGG‐TAG
TGG‐TGA
ACA‐AGA
CAT‐CTT
GCT‐GAT
TGG‐TAG
TGG‐TGA
GGC‐GAC
GTC‐GGC
GGC‐GTC
CGA‐TGA
TGC‐CGC
TGC‐TGA
GGC‐GAC
GGA‐GCA
GGA‐GTA
AAC‐AAA
GAC‐GTC
TGG‐GGG
CGA‐TGA
CAG‐TAG
CCA‐ACA
GTC‐GAC
CCG‐CTG
TGG‐TGA
GTG‐ATG
CAG‐CGG
ACA‐CCA
ACG‐ATG
CAG‐TAG
TCT‐TTT
GGC‐AGC
CGG‐CCG
CCG‐CTG
GGG‐AGG
GGG‐CGG
GGG‐TGG
GAA‐TAA
GAA‐TAA
TGG‐TAG
GGA‐GTA
CTG‐CCG
AGG‐GGG
GAC‐CAC
GGG‐AGG
GAT‐CAT
GGC‐AGC
Term2352Arg
Term2352Cys
Met1Val
Asn16Ile
Ala35Thr
Phe62Cys
Trp78Term
Trp78Term
Thr125Arg
His133Leu
Ala134Asp
Trp152Term
Trp152Term
Gly158Asp
Val166Gly
Gly170Val
Arg174Term
Cys193Arg
Cys193Term
Gly207Asp
Gly227Ala
Gly227Val
Asn232Lys
Asp233Val
Trp234Gly
Arg237Term
Gln240Term
Pro249Thr
Val259Asp
Pro261Leu
Trp262Term
Val263Met
Gln279Arg
Thr294Pro
Thr325Met
Gln328Term
Ser334Phe
Gly337Ser
Arg341Pro
Pro342Leu
Gly343Arg
Gly343Arg
Gly343Trp
Glu357Term
Glu364Term
Trp367Term
Gly369Val
Leu375Pro
Arg381Gly
Asp386His
Gly387Arg
Asp399His
Gly404Ser
7054T>C
Term2333Cys
1A>G
47A>T
103G>A
185T>G
233G>A
234G>A
374C>G
398A>T
401C>A
455G>A
456G>A
473G>A
497T>G
509G>T
520C>T
577T>C
579C>A
620G>A
680G>C
680G>T
696C>A
698A>T
700T>G
709C>T
718C>T
745C>A
776T>A
782C>T
786G>A
787G>A
836A>G
880A>C
974C>T
982C>T
1001C>T
1009G>A
1022G>C
1025C>T
1027G>A
1027G>C
1027G>T
1069G>T
1090G>T
1100G>A
1106G>T
1124T>C
1141A>G
1156G>C
1159G>A
1195G>C
1210G>A
*2352R
7056A>C
M1V
N16I
A35T
F62C
W78*
W78*
T125R
H133L
A134D
W152*
W152*
G158D
V166G
G170V
R174*
C193R
C193*
G207D
G227A
G227V
N232K
D233V
W234G
R237*
Q240*
P249T
V259D
P261L
W262*
V263M
Q279R
T294P
T325M
Q328*
S334F
G337S
R341P
P342L
G343R
G343R
G343W
E357*
E364*
W367*
G369V
L375P
R381G
D386H
G387R
D399H
G404S
Haemophilia A
*2352C
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Tyrosinaemia 1
Santacroce (2008) J Hum Genet 53:275
Haemophilia A
Arranz (2005) Hum Genet 118:537
Phaneuf (1992) J Clin Invest 90:1185
Cassiman (2009) Orphanet J Rare Dis 4:28
Awata (1994) Biochim Biophys Acta 1226:168
Arranz (2002) Hum Mutat 20:180
Couce (2011) Pediatr Int 53:985
Imtiaz (2011) Mol Genet Metab 104:688
Couce (2011) Pediatr Int 53:985
Labelle (1993) Hum Mol Genet 2:941
29:648
Tabor (2014) Am J Hum Genet 95:183
Bergman (1998) Hum Mutat 12:19
Rootwelt (1996) Hum Mutat 7:239
Imtiaz (2011) Mol Genet Metab 104:688
Timmers (1996) Hum Mutat 7:367
Ploos van Amstel (1996) Hum Genet 97:51
Vondrácková (2010) Cas Lek Cesk 149:411
Timmers (1996) Hum Mutat 7:367
Imtiaz (2011) Mol Genet Metab 104:688
Vondrácková (2010) Cas Lek Cesk 149:411
Dursun (2011) JIMD Rep 1:17
Rootwelt (1994) Am J Hum Genet 55:653
Hahn (1995) Hum Mutat 6:66
Ploos van Amstel (1996) Hum Genet 97:51
Imtiaz (2011) Mol Genet Metab 104:688
Timmers (1996) Hum Mutat 7:367
Dursun (2011) JIMD Rep 1:17
Bergman (1998) Hum Mutat 12:19
StLouis (1994) Hum Mol Genet 3:69
Imtiaz (2011) Mol Genet Metab 104:688
Kim (2000) J Inherit Metab Dis 23:791
Timmers (1996) Hum Mutat 7:367
Couce (2011) Pediatr Int 53:985
Arranz (2002) Hum Mutat 20:180
Imtiaz (2011) Mol Genet Metab 104:688
Rootwelt (1994) Hum Genet 94:235
Imtiaz (2011) Mol Genet Metab 104:688
Rootwelt (1994) Hum Genet 93:615
29:648
Imtiaz (2011) Mol Genet Metab 104:688
Arranz (2002) Hum Mutat 20:180
Grompe (1993) Hum Mutat 2:85
Grompe (1993) Hum Mutat 2:85
29:648
Ploos van Amstel (1996) Hum Genet 97:51
Cao (2012) Chin Med J (Engl) 125:2132
StLouis (1995) Hum Mol Genet 4:319
Al‐Shamsi (2014) Sultan Qaboos Univ Med J 14:e42
Sheth (2012) Case Rep Genet 2012:428075
Imtiaz (2011) Mol Genet Metab 104:688
Vondrácková (2010) Cas Lek Cesk 149:411
PubMed 18217193
Eckhardt (2012) Haemophilia 18S3:96
Source: Online submission
PubMed 1401056
PubMed 20003495
PubMed 8204664
PubMed 12203990
PubMed 21752152
PubMed 21764616
PubMed 21752152
PubMed 8364576
PubMed 23225041
PubMed 25087612
PubMed 9633815
PubMed 8829657
PubMed 21764616
PubMed 8723690
PubMed 8557261
PubMed 21117323
PubMed 8723690
PubMed 21764616
PubMed 21117323
PubMed 23430822
PubMed 7942842
PubMed 7550234
PubMed 8557261
PubMed 21764616
PubMed 8723690
PubMed 23430822
PubMed 9633815
PubMed 8162054
PubMed 21764616
PubMed 11196105
PubMed 8723690
PubMed 21752152
PubMed 12203990
PubMed 21764616
PubMed 8076937
PubMed 21764616
PubMed 8005583
PubMed 23225041
PubMed 21764616
PubMed 12203990
PubMed 8318997
PubMed 8318997
PubMed 23225041
PubMed 8557261
PubMed 22884142
PubMed 7757089
PubMed 24516753
PubMed 23193487
PubMed 21764616
PubMed 21117323
www.ngpd.it
FANCC
FANCC
FANCC
FANCC
FANCC
FANCC
FANCC
FANCC
FANCC
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM940754
CM960620
CM930240
CM940755
CM0910452
CM060989
CM960625
CM930241
CM920267
CM091204
CM117701
CM054704
CM130604
CM093608
CM1110388
CM021992
CM145706
CM096435
CM098631
CM062701
CM131911
CM095634
CM098632
CM117702
CM077273
CM013916
CM098633
CM067403
CM093609
CM098635
CM970504
CM021993
CM940756
CM054715
CM118483
CM126925
CM950436
CM138429
CM062707
CM077278
CM085405
CM1312142
CM127279
CM077274
CM098636
CM040031
CM055260
CM098637
CM098638
CM023914
CM055251
CM950437
CM040032
CAG‐TAG
TGG‐TAG
CGA‐TGA
GAT‐GTT
TGG‐CGG
CAG‐TAG
CTC‐CGC
CGA‐TGA
CTG‐CCG
ATG‐TTG
CTG‐CGG
TAC‐TGC
GGA‐GAA
AAT‐GAT
TGT‐CGT
CGT‐TGT
CGT‐CAT
TGT‐CGT
TGC‐AGC
TGG‐CGG
AAA‐TAA
GGA‐TGA
TGT‐CGT
TGT‐GGT
TGT‐TAT
TGT‐TTT
TGT‐TGG
TGT‐TAT
TGC‐TAC
ACT‐GCT
TGT‐CGT
TCC‐TGC
CGC‐TGC
TGT‐TAT
ATG‐GTG
TGC‐GGC
TGC‐TAC
TGT‐CGT
TGT‐GGT
TGT‐TCT
TGC‐AGC
TGC‐TGA
TGT‐CGT
TGT‐TAT
CCT‐TCT
TGT‐TCT
TGT‐TGA
TGT‐GGT
TGT‐TAT
AAT‐AGT
CGA‐TGA
TGT‐TTT
TGT‐AGT
Gln13Term
Trp22Term
Arg185Term
Asp195Val
Trp403Arg
Gln465Term
Leu496Arg
Arg548Term
Leu554Pro
Met1Leu
Leu11Arg
Tyr20Cys
Gly55Glu
Asn57Asp
Cys59Arg
Arg62Cys
Arg62His
Cys67Arg
Cys68Ser
Trp71Arg
Lys72Term
Gly77Term
Cys80Arg
Cys80Gly
Cys80Tyr
Cys89Phe
Cys89Trp
Cys89Tyr
Cys100Tyr
Thr101Ala
Cys111Arg
Ser115Cys
Arg122Cys
Cys123Tyr
Met124Val
Cys129Gly
Cys129Tyr
Cys134Arg
Cys134Gly
Cys134Ser
Cys136Ser
Cys136Term
Cys145Arg
Cys145Tyr
Pro148Ser
Cys154Ser
Cys154Term
Cys160Gly
Cys160Tyr
Asn164Ser
Arg165Term
Cys166Phe
Cys166Ser
37C>T
65G>A
553C>T
584A>T
1207T>C
1393C>T
1487T>G
1642C>T
1661T>C
1A>T
32T>G
59A>G
164G>A
169A>G
175T>C
184C>T
185G>A
199T>C
202T>A
211T>C
214A>T
229G>T
238T>C
238T>G
239G>A
266G>T
267T>G
266G>A
299G>A
301A>G
331T>C
344C>G
364C>T
368G>A
370A>G
385T>G
386G>A
400T>C
400T>G
401G>C
406T>A
408C>A
433T>C
434G>A
442C>T
461G>C
462T>A
478T>G
479G>A
491A>G
493C>T
497G>T
496T>A
Q13*
W22*
R185*
D195V
W403R
Q465*
L496R
R548*
L554P
M1L
L11R
Y20C
G55E
N57D
C59R
R62C
R62H
C67R
C68S
W71R
K72*
G77*
C80R
C80G
C80Y
C89F
C89W
C89Y
C100Y
T101A
C111R
S115C
R122C
C123Y
M124V
C129G
C129Y
C134R
C134G
C134S
C136S
C136*
C145R
C145Y
P148S
C154S
C154*
C160G
C160Y
N164S
R165*
C166F
C166S
Fanconi anaemia
Fanconi anaemia
Fanconi anaemia
Fanconi anaemia
Fanconi anaemia
Fanconi anaemia
Fanconi anaemia
Fanconi anaemia
Fanconi anaemia
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Verlander (1994) Am J Hum Genet 54:595
Gibson (1996) Hum Mutat 8:140
Gibson (1993) Hum Mol Genet 2:797
Verlander (1994) Am J Hum Genet 54:595
Pinto (2009) Haematologica 94:487
Yates (2006) Hum Mutat 27:214
Gibson (1996) Hum Mutat 8:140
Murer‐Orlando (1993) Lancet 342:686
Strathdee (1992) Nature 356:763
Rybczynski (2008) Am J Med Genet A 146A:3157
Baetens (2011) Hum Mutat 32:1053
Arbustini (2005) Hum Mutat 26:494
Wang (2013) J Mol Med (Berl) 91:37
Chung (2009) Am J Med Genet A 149A:1452
Wei (2011) PLoS One 6:e29500
Korkko (2002) J Med Genet 39:34
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Hung (2009) Ann Hum Genet 73:559
Stheneur (2009) Eur J Hum Genet 17:1121
Sakai (2006) Am J Med Genet A 140A:1719
Kuchtey (2013) Am J Med Genet A 161:880
Magyar (2009) Hum Mutat 30:1355
Stheneur (2009) Eur J Hum Genet 17:1121
Baetens (2011) Hum Mutat 32:1053
Howarth (2007) Genet Test 11:146
Loeys (2001) Arch Intern Med 161:2447
Stheneur (2009) Eur J Hum Genet 17:1121
Tjeldhorn (2006) Genet Test 10:258
Chung (2009) Am J Med Genet A 149A:1452
Stheneur (2009) Eur J Hum Genet 17:1121
Hayward (1997) Hum Mutat 10:280
Robinson (2002) Hum Mutat 20:153
Stahl‐Hallengren (1994) J Clin Invest 94:709
Arbustini (2005) Hum Mutat 26:494
Zadeh (2011) Am J Med Genet A 155:2661
Haji‐Seyed‐Javadi (2012) Hum Mutat 33:1182
Nijbroek (1995) Am J Hum Genet 57:8
Attanasio (2013) Eur J Med Genet 56:356
Sakai (2006) Am J Med Genet A 140A:1719
Howarth (2007) Genet Test 11:146
Attanasio (2008) Clin Genet 74:39
Aalberts (2014) Gene 534:40
Robinson (2012) Clin Genet 82:223
Howarth (2007) Genet Test 11:146
Stheneur (2009) Eur J Hum Genet 17:1121
Biggin (2004) Hum Mutat 23:99
Rommel (2005) Hum Mutat 26:529
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Comeglio (2002) Br J Ophthalmol 86:1359
Rommel (2005) Hum Mutat 26:529
Nijbroek (1995) Am J Hum Genet 57:8
Biggin (2004) Hum Mutat 23:99
PubMed 8128956
PubMed 8844212
PubMed 7689011
PubMed 8128956
PubMed 19278965
PubMed 16429406
PubMed 8844212
PubMed 8103176
PubMed 1574115
PubMed 19012347
PubMed 21542060
PubMed 16222657
PubMed 22772377
PubMed 19533785
PubMed 22216297
PubMed 11826022
PubMed 24793577
PubMed 19839986
PubMed 19293843
PubMed 16835936
PubMed 23444230
PubMed 19618372
PubMed 19293843
PubMed 21542060
PubMed 17627385
PubMed 11700157
PubMed 19293843
PubMed 17253931
PubMed 19533785
PubMed 19293843
PubMed 9338581
PubMed 12203987
PubMed 8040326
PubMed 16222657
PubMed 21932315
PubMed 22539340
PubMed 7611299
PubMed 23684891
PubMed 16835936
PubMed 17627385
PubMed 18435798
PubMed 24161884
PubMed 21895641
PubMed 17627385
PubMed 19293843
PubMed 14695540
PubMed 16220557
PubMed 19293843
PubMed 19293843
PubMed 12446365
PubMed 16220557
PubMed 7611299
PubMed 14695540
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM970505
CM119210
CM040033
CM972798
CM054702
CM085416
CM085427
CM043995
CM098510
CM067404
CM1312102
CM094367
CM003136
CM940757
CM056960
CM098612
CM098613
CM088212
CM983861
CM090180
CM062712
CM940758
CM132727
CM074792
CM098622
CM118002
CM100463
CM067393
CM098623
CM054692
CM074793
CM144424
CM042033
CM074801
CM145703
CM015151
CM1312103
CM074855
CM100464
CM091206
CM091205
CM020685
CM972799
CM054709
CM098614
CM022783
CM054690
CM1312144
CM098642
CM098643
CM118486
CM098605
CM098611
TGT‐TCT
TGC‐TGG
TAC‐TAG
CAG‐TAG
TGT‐CGT
TGT‐AGT
TGT‐TAT
CAG‐TAG
TGC‐TAC
TGT‐TAT
ACA‐AGA
GGC‐CGC
CGA‐TGA
TGG‐GGG
TGG‐TGA
GAG‐TAG
CAG‐TAG
AAT‐AAC
CGC‐TGC
CGC‐CAC
CAG‐TAG
GGG‐AGG
TGC‐TGA
CAA‐TAA
TGC‐TGA
TGT‐TGA
TAC‐TAA
GGG‐AGG
TGC‐TGA
CAG‐TAG
CAG‐TAG
ACC‐AGC
TGC‐TAC
TGC‐CGC
TGC‐TGA
TGG‐TGT
TGG‐TTG
TGG‐TAG
TGG‐TGA
GAG‐CAG
GAG‐AAG
CGA‐TGA
TAT‐TAG
CGG‐GGG
GAG‐TAG
GTT‐ATT
CAG‐CCG
CAG‐TAG
TAT‐TCT
TGT‐TCT
TGT‐TAT
CAA‐TAA
TAC‐TAA
Cys166Ser
Cys168Trp
Tyr170Term
Gln176Term
Cys177Arg
Cys177Ser
Cys177Tyr
Gln196Term
Cys209Tyr
Cys210Tyr
Thr212Arg
Gly214Arg
Arg215Term
Trp217Gly
Trp217Term
Glu222Term
Gln227Term
Asn238Asn
Arg240Cys
Arg240His
Gln258Term
Gly267Arg
Cys271Term
Gln284Term
Cys292Term
Cys315Term
Tyr337Term
Gly343Arg
Cys345Term
Gln348Term
Gln351Term
Thr354Ser
Cys359Tyr
Cys365Arg
Cys365Term
Trp366Cys
Trp366Leu
Trp366Term
Trp366Term
Glu383Gln
Glu383Lys
Arg429Term
Tyr434Term
Arg439Gly
Glu440Term
Val449Ile
Gln454Pro
Gln454Term
Tyr458Ser
Cys460Ser
Cys460Tyr
Gln461Term
Tyr472Term
497G>C
504C>G
510C>G
526C>T
529T>C
529T>A
530G>A
586C>T
626G>A
629G>A
635C>G
640G>C
643C>T
649T>G
651G>A
664G>T
679C>T
714T>C
718C>T
719G>A
772C>T
799G>A
813C>A
850C>T
876C>A
945T>A
1011C>A
1027G>A
1035C>A
1042C>T
1051C>T
1061C>G
1076G>A
1093T>C
1095C>A
1098G>T
1097G>T
1097G>A
1098G>A
1147G>C
1147G>A
1285C>T
1302T>G
1315C>G
1318G>T
1345G>A
1361A>C
1360C>T
1373A>C
1379G>C
1379G>A
1381C>T
1416C>A
C166S
C168W
Y170*
Q176*
C177R
C177S
C177Y
Q196*
C209Y
C210Y
T212R
G214R
R215*
W217G
W217*
E222*
Q227*
N238N
R240C
R240H
Q258*
G267R
C271*
Q284*
C292*
C315*
Y337*
G343R
C345*
Q348*
Q351*
T354S
C359Y
C365R
C365*
W366C
W366L
W366*
W366*
E383Q
E383K
R429*
Y434*
R439G
E440*
V449I
Q454P
Q454*
Y458S
C460S
C460Y
Q461*
Y472*
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Collod‐Beroud (1997) Nucleic Acids Res 25:147
Milla (2012) Eur J Ophthalmol 22:667
Biggin (2004) Hum Mutat 23:99
Liu (1997) Genet Test 1:237
Arbustini (2005) Hum Mutat 26:494
Attanasio (2008) Clin Genet 74:39
Attanasio (2008) Clin Genet 74:39
Uyeda (2004) J Hum Genet 49:404
Rybczynski (2008) Am J Med Genet A 146A:3157
Tjeldhorn (2006) Genet Test 10:258
Aalberts (2014) Gene 534:40
Voermans (2009) Clin Genet 76:25
Matsukawa (2000) Hum Mutat 17:71
Karttunen (1994) Am J Hum Genet 55:1083
Baumgartner (2005) Methods Inf Med 44:487
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Rybczynski (2008) Am J Med Genet A 146A:3157
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Van Dijk (2009) Eur J Med Genet 52:1
Sakai (2006) Am J Med Genet A 140A:1719
Karttunen (1994) Am J Hum Genet 55:1083
Zhao (2013) Mol Vis 19:751
Comeglio (2007) Hum Mutat 28:928
Stheneur (2009) Eur J Hum Genet 17:1121
Ogawa (2011) Am J Cardiol 108:1801
Yoo (2010) Clin Genet 77:177
Tjeldhorn (2006) Genet Test 10:258
Stheneur (2009) Eur J Hum Genet 17:1121
Arbustini (2005) Hum Mutat 26:494
Comeglio (2007) Hum Mutat 28:928
Wilson (2014) Am J Med Genet A 164:1209
Loeys (2004) Hum Mutat 24:140
Comeglio (2007) Hum Mutat 28:928
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Loeys (2001) Arch Intern Med 161:2447
Aalberts (2014) Gene 534:40
Comeglio (2007) Hum Mutat 28:928
Yoo (2010) Clin Genet 77:177
Söylen (2009) Clin Genet 75:265
Söylen (2009) Clin Genet 75:265
Matyas (2002) Hum Mutat 19:443
Liu (1997) Genet Test 1:237
Arbustini (2005) Hum Mutat 26:494
Stheneur (2009) Eur J Hum Genet 17:1121
Rommel (2002) Hum Mutat 20:406
Arbustini (2005) Hum Mutat 26:494
Aalberts (2014) Gene 534:40
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Zadeh (2011) Am J Med Genet A 155:2661
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
PubMed 9016526
PubMed 22034023
PubMed 14695540
PubMed 10464652
PubMed 16222657
PubMed 18435798
PubMed 18435798
PubMed 15221638
PubMed 19012347
PubMed 17253931
PubMed 24161884
PubMed 19659760
PubMed 11139245
PubMed 7977366
PubMed 16342915
PubMed 19293843
PubMed 19293843
PubMed 19012347
PubMed 9399842
PubMed 19059503
PubMed 16835936
PubMed 7977366
PubMed 23592911
PubMed 17657824
PubMed 19293843
PubMed 21907952
PubMed 19863550
PubMed 17253931
PubMed 19293843
PubMed 16222657
PubMed 17657824
PubMed 24664531
PubMed 15241795
PubMed 17657824
PubMed 24793577
PubMed 11700157
PubMed 24161884
PubMed 17657824
PubMed 19863550
PubMed 19159394
PubMed 19159394
PubMed 11933199
PubMed 10464652
PubMed 16222657
PubMed 19293843
PubMed 12402346
PubMed 16222657
PubMed 24161884
PubMed 19293843
PubMed 19293843
PubMed 21932315
PubMed 19293843
PubMed 19293843
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM000701
CM012598
CM118484
CM940759
CM098606
CM056956
CM085417
CM042034
CM095758
CM970506
CM1313965
CM992320
CM087769
CM130602
CM117704
CM990586
CM077275
CM054693
CM042035
CM1213072
CM074166
CM098645
CM098646
CM990587
CM088217
CM1313966
CM055252
CM098647
CM970507
CM074848
CM930242
CM145705
CM013917
CM950438
CM992321
CM117992
CM013918
CM020134
CM100473
CM085422
CM085415
CM100093
CM056957
CM970508
CM013919
CM117993
CM021994
CM983862
CM117705
CM096437
CM972800
CM098649
CM117706
TGT‐TTT
TGT‐TGG
TGC‐CGC
TGC‐GGC
AAA‐TAA
CGT‐TGT
TGT‐CGT
TGT‐TTT
TGT‐TGA
GAT‐TAT
TGT‐TAT
TGT‐CGT
TGT‐AGT
TGT‐TCT
TGT‐TAT
TGT‐TTT
TGT‐TAT
CGA‐TGA
TAT‐TGT
TGC‐TAC
CGA‐TGA
GAG‐GGG
TGT‐CGT
TGT‐TAT
CAG‐TAG
TGC‐TTC
TGC‐TAC
GGA‐CGA
CGC‐TGC
TGC‐TGG
AAC‐ATC
GCG‐GTG
GGC‐AGC
CGA‐TGA
TGT‐CGT
TGT‐TCT
TGT‐TAT
GAA‐TAA
GAT‐GGT
TGC‐TAC
TGC‐CGC
GGA‐CGA
GGA‐GAA
TGT‐TAT
GGC‐GAC
TGT‐GGT
TGT‐TAT
TGC‐TGG
TGC‐CGC
GAC‐AAC
GAG‐GGG
GAG‐AAG
TGT‐GGT
Cys474Phe
Cys474Trp
Cys476Arg
Cys476Gly
Lys478Term
Arg485Cys
Cys488Arg
Cys488Phe
Cys488Term
Asp490Tyr
Cys494Tyr
Cys499Arg
Cys499Ser
Cys499Ser
Cys499Tyr
Cys504Phe
Cys504Tyr
Arg516Term
Tyr519Cys
Cys528Tyr
Arg529Term
Glu533Gly
Cys534Arg
Cys534Tyr
Gln536Term
Cys541Phe
Cys541Tyr
Gly544Arg
Arg545Cys
Cys546Trp
Asn548Ile
Ala559Val
Gly560Ser
Arg565Term
Cys570Arg
Cys570Ser
Cys570Tyr
Glu571Term
Asp574Gly
Cys576Tyr
Cys582Arg
Gly585Arg
Gly585Glu
Cys587Tyr
Gly592Asp
Cys596Gly
Cys596Tyr
Cys598Trp
Cys611Arg
Asp613Asn
Glu616Gly
Glu616Lys
Cys617Gly
1421G>T
1422T>G
1426T>C
1426T>G
1432A>T
1453C>T
1462T>C
1463G>T
1464T>A
1468G>T
1481G>A
1495T>C
1495T>A
1496G>C
1496G>A
1511G>T
1511G>A
1546C>T
1556A>G
1583G>A
1585C>T
1598A>G
1600T>C
1601G>A
1606C>T
1622G>T
1622G>A
1630G>C
1633C>T
1638C>G
1643A>T
1676C>T
1678G>A
1693C>T
1708T>C
1709G>C
1709G>A
1711G>T
1721A>G
1727G>A
1744T>C
1753G>C
1754G>A
1760G>A
1775G>A
1786T>G
1787G>A
1794C>G
1831T>C
1837G>A
1847A>G
1846G>A
1849T>G
C474F
C474W
C476R
C476G
K478*
R485C
C488R
C488F
C488*
D490Y
C494Y
C499R
C499S
C499S
C499Y
C504F
C504Y
R516*
Y519C
C528Y
R529*
E533G
C534R
C534Y
Q536*
C541F
C541Y
G544R
R545C
C546W
N548I
A559V
G560S
R565*
C570R
C570S
C570Y
E571*
D574G
C576Y
C582R
G585R
G585E
C587Y
G592D
C596G
C596Y
C598W
C611R
D613N
E616G
E616K
C617G
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Chikumi (2000) J Hum Genet 45:115
Comeglio (2001) Hum Mutat 18:251
Zadeh (2011) Am J Med Genet A 155:2661
Piersall (1994) Hum Mol Genet 3:1013
Stheneur (2009) Eur J Hum Genet 17:1121
Baumgartner (2005) Methods Inf Med 44:487
Attanasio (2008) Clin Genet 74:39
Loeys (2004) Hum Mutat 24:140
Tang (2009) Am J Med Genet A 149A:2216
Hayward (1997) Hum Mutat 10:415
McInerney‐Leo (2013) Bonekey Rep 2:456
Schrijver (1999) Am J Hum Genet 65:1007
Li (2008) Genet Test 12:325
Wang (2013) J Mol Med (Berl) 91:37
Baetens (2011) Hum Mutat 32:1053
El‐Aleem (1999) Hum Mutat 14:181
Howarth (2007) Genet Test 11:146
Arbustini (2005) Hum Mutat 26:494
Loeys (2004) Hum Mutat 24:140
Winer (2012) Endocr Pathol 23:254
143A:1968
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Kilpatrick (1999) Hum Hered 49:176
Rybczynski (2008) Am J Med Genet A 146A:3157
McInerney‐Leo (2013) Bonekey Rep 2:456
Rommel (2005) Hum Mutat 26:529
Stheneur (2009) Eur J Hum Genet 17:1121
Hayward (1997) Hum Mutat 10:280
Comeglio (2007) Hum Mutat 28:928
Dietz (1993) Genomics 17:468
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Loeys (2001) Arch Intern Med 161:2447
Quan (1995) Am J Hum Genet 57S:A333
Schrijver (1999) Am J Hum Genet 65:1007
Ogawa (2011) Am J Cardiol 108:1801
Loeys (2001) Arch Intern Med 161:2447
Korkko (2002) J Med Genet 39:34
Yoo (2010) Clin Genet 77:177
Attanasio (2008) Clin Genet 74:39
Attanasio (2008) Clin Genet 74:39
Khau Van Kien (2010) Hum Mutat 31:E1021
Baumgartner (2005) Methods Inf Med 44:487
Booms (1997) Hum Genet 100:195
Loeys (2001) Arch Intern Med 161:2447
Ogawa (2011) Am J Cardiol 108:1801
Robinson (2002) Hum Mutat 20:153
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Baetens (2011) Hum Mutat 32:1053
Hung (2009) Ann Hum Genet 73:559
Liu (1997) Genet Test 1:237
Stheneur (2009) Eur J Hum Genet 17:1121
Baetens (2011) Hum Mutat 32:1053
PubMed 10721679
PubMed 11524736
PubMed 21932315
PubMed 7951214
PubMed 19293843
PubMed 16342915
PubMed 18435798
PubMed 15241795
PubMed 19725129
PubMed 9401003
PubMed 24501682
PubMed 10486319
PubMed 18471089
PubMed 22772377
PubMed 21542060
PubMed 10425041
PubMed 17627385
PubMed 16222657
PubMed 15241795
PubMed 22847364
PubMed 17663468
PubMed 19293843
PubMed 19293843
PubMed 10364683
PubMed 19012347
PubMed 24501682
PubMed 16220557
PubMed 19293843
PubMed 9338581
PubMed 17657824
PubMed 8406497
PubMed 24793577
PubMed 11700157
Source: Meeting abstract
PubMed 10486319
PubMed 21907952
PubMed 11700157
PubMed 11826022
PubMed 19863550
PubMed 18435798
PubMed 18435798
PubMed 19802897
PubMed 16342915
PubMed 9254848
PubMed 11700157
PubMed 21907952
PubMed 12203987
PubMed 9399842
PubMed 21542060
PubMed 19839986
PubMed 10464652
PubMed 19293843
PubMed 21542060
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM098650
CM010883
CM940760
CM127280
CM098651
CM023915
CM054705
CM095635
CM054686
CM992322
CM098652
CM117994
CM132728
CM077265
CM098653
CM118485
CM1312096
CM040034
CM023916
CM021592
CM970509
CM098654
CM021995
CM113531
CM021996
CM021997
CM100474
CM085428
CM021998
CM117707
CM098656
CM096438
CM054724
CM960626
CM095636
CM960627
CM085404
CM930243
CM021999
CM117995
CM067400
CM098657
CM074856
CM022000
CM098658
CM950439
CM145708
CM021593
CM940761
CM098659
CM055253
CM042036
CM077248
TGC‐GGC
TGC‐TTC
CGT‐TGT
TGC‐TAC
AAC‐AAA
TCC‐CCC
TAC‐TGC
TAC‐TAG
AGA‐ATA
TGT‐CGT
TGT‐TTT
TGT‐TGG
TGT‐TAT
TGC‐TAC
CTG‐CCG
CGT‐TGT
TGT‐CGT
TGT‐TCT
TGT‐TAT
GAC‐AAC
TGC‐CGC
TGC‐GGC
TGC‐TAC
TAC‐TAG
TCT‐TAT
TGC‐CGC
TGC‐TAC
TGT‐TAT
TGC‐TGG
TGC‐TAC
GCC‐GAC
GCC‐ACC
TGT‐TGA
GCG‐ACG
CAG‐TAG
TGC‐TAC
GGC‐TGC
GAT‐GCT
GAT‐GTT
ATA‐AGA
ATA‐GTA
GAA‐GGA
TGT‐TAT
TGC‐TTC
TGT‐CGT
TAT‐TGT
TGT‐CGT
TGT‐TAT
TGC‐GGC
TGC‐AGC
TGC‐TGA
TAT‐TGT
TGT‐CGT
Cys623Gly
Cys623Phe
Arg627Cys
Cys628Tyr
Asn630Lys
Ser634Pro
Tyr635Cys
Tyr635Term
Arg636Ile
Cys637Arg
Cys637Phe
Cys637Trp
Cys637Tyr
Cys639Tyr
Leu643Pro
Arg650Cys
Cys652Arg
Cys652Ser
Cys652Tyr
Asp654Asn
Cys661Arg
Cys661Gly
Cys661Tyr
Tyr665Term
Ser681Tyr
Cys683Arg
Cys683Tyr
Cys684Tyr
Cys685Trp
Cys685Tyr
Ala686Asp
Ala686Thr
Cys699Term
Ala705Thr
Gln708Term
Cys711Tyr
Gly721Cys
Asp723Ala
Asp723Val
Ile724Arg
Ile724Val
Glu726Gly
Cys727Tyr
Cys734Phe
Cys739Arg
Tyr746Cys
Cys748Arg
Cys748Tyr
Cys750Gly
Cys750Ser
Cys750Term
Tyr754Cys
Cys769Arg
1867T>G
1868G>T
1879C>T
1883G>A
1890C>A
1900T>C
1904A>G
1905C>G
1907G>T
1909T>C
1910G>T
1911T>G
1910G>A
1916G>A
1928T>C
1948C>T
1954T>C
1955G>C
1955G>A
1960G>A
1981T>C
1981T>G
1982G>A
1995C>G
2042C>A
2047T>C
2048G>A
2051G>A
2055C>G
2054G>A
2057C>A
2056G>A
2097T>A
2113G>A
2122C>T
2132G>A
2161G>T
2168A>C
2168A>T
2171T>G
2170A>G
2177A>G
2180G>A
2201G>T
2215T>C
2237A>G
2242T>C
2243G>A
2248T>G
2248T>A
2250C>A
2261A>G
2305T>C
C623G
C623F
R627C
C628Y
N630K
S634P
Y635C
Y635*
R636I
C637R
C637F
C637W
C637Y
C639Y
L643P
R650C
C652R
C652S
C652Y
D654N
C661R
C661G
C661Y
Y665*
S681Y
C683R
C683Y
C684Y
C685W
C685Y
A686D
A686T
C699*
A705T
Q708*
C711Y
G721C
D723A
D723V
I724R
I724V
E726G
C727Y
C734F
C739R
Y746C
C748R
C748Y
C750G
C750S
C750*
Y754C
C769R
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Stheneur (2009) Eur J Hum Genet 17:1121
Toudjarska (2001) Am J Med Genet 99:294
Hayward (1994) Hum Mol Genet 3:373
Robinson (2012) Clin Genet 82:223
Stheneur (2009) Eur J Hum Genet 17:1121
Comeglio (2002) Br J Ophthalmol 86:1359
Arbustini (2005) Hum Mutat 26:494
Magyar (2009) Hum Mutat 30:1355
Arbustini (2005) Hum Mutat 26:494
Schrijver (1999) Am J Hum Genet 65:1007
Stheneur (2009) Eur J Hum Genet 17:1121
Ogawa (2011) Am J Cardiol 108:1801
Zhao (2013) Mol Vis 19:751
Howarth (2007) Genet Test 11:146
Stheneur (2009) Eur J Hum Genet 17:1121
Zadeh (2011) Am J Med Genet A 155:2661
Aalberts (2014) Gene 534:40
Biggin (2004) Hum Mutat 23:99
Comeglio (2002) Br J Ophthalmol 86:1359
Halliday (2002) J Med Genet 39:589
Collod‐Beroud (1997) Nucleic Acids Res 25:147
Stheneur (2009) Eur J Hum Genet 17:1121
Robinson (2002) Hum Mutat 20:153
Lebreiro (2011) Rev Esp Cardiol 64:151
Robinson (2002) Hum Mutat 20:153
Robinson (2002) Hum Mutat 20:153
Yoo (2010) Clin Genet 77:177
Attanasio (2008) Clin Genet 74:39
Robinson (2002) Hum Mutat 20:153
Baetens (2011) Hum Mutat 32:1053
Stheneur (2009) Eur J Hum Genet 17:1121
Hung (2009) Ann Hum Genet 73:559
Arbustini (2005) Hum Mutat 26:494
Ades (1996) J Med Genet 33:665
Magyar (2009) Hum Mutat 30:1355
Ades (1996) J Med Genet 33:665
Attanasio (2008) Clin Genet 74:39
Dietz (1993) Genomics 17:468
Robinson (2002) Hum Mutat 20:153
Ogawa (2011) Am J Cardiol 108:1801
Tjeldhorn (2006) Genet Test 10:258
Stheneur (2009) Eur J Hum Genet 17:1121
Comeglio (2007) Hum Mutat 28:928
Robinson (2002) Hum Mutat 20:153
Stheneur (2009) Eur J Hum Genet 17:1121
Nijbroek (1995) Am J Hum Genet 57:8
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Halliday (2002) J Med Genet 39:589
Hayward (1994) Hum Mol Genet 3:373
Stheneur (2009) Eur J Hum Genet 17:1121
Rommel (2005) Hum Mutat 26:529
Summers (2004) Clin Genet 65:66
Howarth (2007) Genet Test 11:146
PubMed 19293843
PubMed 11251996
PubMed 8004112
PubMed 21895641
PubMed 19293843
PubMed 12446365
PubMed 16222657
PubMed 19618372
PubMed 16222657
PubMed 10486319
PubMed 19293843
PubMed 21907952
PubMed 23592911
PubMed 17627385
PubMed 19293843
PubMed 21932315
PubMed 24161884
PubMed 14695540
PubMed 12446365
PubMed 12161601
PubMed 9016526
PubMed 19293843
PubMed 12203987
PubMed 21194821
PubMed 12203987
PubMed 12203987
PubMed 19863550
PubMed 18435798
PubMed 12203987
PubMed 21542060
PubMed 19293843
PubMed 19839986
PubMed 16222657
PubMed 8863159
PubMed 19618372
PubMed 8863159
PubMed 18435798
PubMed 8406497
PubMed 12203987
PubMed 21907952
PubMed 17253931
PubMed 19293843
PubMed 17657824
PubMed 12203987
PubMed 19293843
PubMed 7611299
PubMed 24793577
PubMed 12161601
PubMed 8004112
PubMed 19293843
PubMed 16220557
PubMed 15032979
PubMed 17627385
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM067389
CM098660
CM022001
CM098661
CM127281
CM013920
CM013921
CM055256
CM098663
CM098664
CM126517
CM117709
CM054713
CM145730
CM077280
CM054710
CM096439
CM042037
CM117710
CM003137
CM085433
CM066807
CM067402
CM983863
CM098625
CM100094
CM098626
CM096440
CM077251
CM074871
CM098665
CM065179
CM096441
CM145732
CM972801
CM1311111
CM117711
CM077272
CM042038
CM098615
CM972802
CM930244
CM098668
CM022784
CM042039
CM085414
CM138430
CM952168
CM054688
CM098669
CM022002
CM014705
CM108648
TGT‐AGT
TGT‐TAT
TGT‐GGT
TGT‐TTT
TGT‐TGG
TGT‐TAT
TGT‐CGT
TGT‐TAT
TGT‐GGT
TGT‐TTT
TGT‐AGT
TGT‐TAT
TGC‐TGA
AAA‐TAA
TGT‐TGG
GAA‐TAA
TGC‐TGA
TGC‐TGG
TGC‐TAC
TCA‐TGA
TGC‐CGC
TGC‐GGC
TGC‐TTC
TGC‐TCC
TGC‐TGA
GGA‐GAA
TGC‐TGA
TGC‐TAC
CCA‐TCA
TTT‐TGT
TGT‐AGT
TGT‐TAT
TGT‐TTT
TGT‐TGG
TGT‐TAT
TGC‐TAC
TGC‐AGC
TGC‐TGA
TGG‐TGA
CAG‐TAG
CGA‐TGA
TGT‐CGT
TGC‐CGC
GGT‐AGT
GCG‐GTG
GGA‐GAA
TGC‐TAC
TGC‐CGC
TGC‐GGC
TGT‐TAT
TGT‐CGT
TGT‐TAT
GAT‐AAT
Cys769Ser
Cys769Tyr
Cys776Gly
Cys776Phe
Cys776Trp
Cys776Tyr
Cys781Arg
Cys781Tyr
Cys790Gly
Cys790Phe
Cys790Ser
Cys790Tyr
Cys792Term
Lys803Term
Cys805Trp
Glu810Term
Cys811Term
Cys811Trp
Cys811Tyr
Ser813Term
Cys816Arg
Cys816Gly
Cys816Phe
Cys816Ser
Cys816Term
Gly819Glu
Cys821Term
Cys821Tyr
Pro825Ser
Phe828Cys
Cys830Ser
Cys830Tyr
Cys832Phe
Cys832Trp
Cys832Tyr
Cys845Tyr
Cys853Ser
Cys853Term
Trp854Term
Gln855Term
Arg861Term
Cys862Arg
Cys875Arg
Gly880Ser
Ala882Val
Gly884Glu
Cys887Tyr
Cys890Arg
Cys890Gly
Cys896Tyr
Cys908Arg
Cys908Tyr
Asp910Asn
2305T>A
2306G>A
2326T>G
2327G>T
2328T>G
2327G>A
2341T>C
2342G>A
2368T>G
2369G>T
2368T>A
2369G>A
2376C>A
2407A>T
2415T>G
2428G>T
2433C>A
2433C>G
2432G>A
2438C>G
2446T>C
2446T>G
2447G>T
2447G>C
2448C>A
2456G>A
2463C>A
2462G>A
2473C>T
2483T>G
2488T>A
2489G>A
2495G>T
2496T>G
2495G>A
2534G>A
2557T>A
2559C>A
2562G>A
2563C>T
2581C>T
2584T>C
2623T>C
2638G>A
2645C>T
2651G>A
2660G>A
2668T>C
2668T>G
2687G>A
2722T>C
2723G>A
2728G>A
C769S
C769Y
C776G
C776F
C776W
C776Y
C781R
C781Y
C790G
C790F
C790S
C790Y
C792*
K803*
C805W
E810*
C811*
C811W
C811Y
S813*
C816R
C816G
C816F
C816S
C816*
G819E
C821*
C821Y
P825S
F828C
C830S
C830Y
C832F
C832W
C832Y
C845Y
C853S
C853*
W854*
Q855*
R861*
C862R
C875R
G880S
A882V
G884E
C887Y
C890R
C890G
C896Y
C908R
C908Y
D910N
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Tjeldhorn (2006) Genet Test 10:258
Stheneur (2009) Eur J Hum Genet 17:1121
Robinson (2002) Hum Mutat 20:153
Stheneur (2009) Eur J Hum Genet 17:1121
Robinson (2012) Clin Genet 82:223
Loeys (2001) Arch Intern Med 161:2447
Loeys (2001) Arch Intern Med 161:2447
Rommel (2005) Hum Mutat 26:529
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Micheal (2012) Mol Vis 18:1918
Baetens (2011) Hum Mutat 32:1053
Arbustini (2005) Hum Mutat 26:494
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Howarth (2007) Genet Test 11:146
Arbustini (2005) Hum Mutat 26:494
Hung (2009) Ann Hum Genet 73:559
Loeys (2004) Hum Mutat 24:140
Baetens (2011) Hum Mutat 32:1053
Matsukawa (2000) Hum Mutat 17:71
Attanasio (2008) Clin Genet 74:39
Lledo (2006) Fertil Steril 86:949
Tjeldhorn (2006) Genet Test 10:258
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Stheneur (2009) Eur J Hum Genet 17:1121
Khau Van Kien (2010) Hum Mutat 31:E1021
Stheneur (2009) Eur J Hum Genet 17:1121
Hung (2009) Ann Hum Genet 73:559
Howarth (2007) Genet Test 11:146
Comeglio (2007) Hum Mutat 28:928
Stheneur (2009) Eur J Hum Genet 17:1121
Ganesh (2006) Arch Ophthalmol 124:205
Hung (2009) Ann Hum Genet 73:559
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Liu (1997) Genet Test 1:237
Callier (2013) Clin Genet :
Baetens (2011) Hum Mutat 32:1053
Howarth (2007) Genet Test 11:146
Loeys (2004) Hum Mutat 24:140
Stheneur (2009) Eur J Hum Genet 17:1121
Liu (1997) Genet Test 1:237
Tynan (1993) Hum Mol Genet 2:1813
Stheneur (2009) Eur J Hum Genet 17:1121
Rommel (2002) Hum Mutat 20:406
Loeys (2004) Hum Mutat 24:140
Attanasio (2008) Clin Genet 74:39
Attanasio (2013) Eur J Med Genet 56:356
Kielty (1995) J Cell Sci 108:1317
Arbustini (2005) Hum Mutat 26:494
Stheneur (2009) Eur J Hum Genet 17:1121
Robinson (2002) Hum Mutat 20:153
Judge (2001) Am J Med Genet 99:39
Hilhorst‐Hofstee (2010) Hum Mutat 31:E1915
PubMed 17253931
PubMed 19293843
PubMed 12203987
PubMed 19293843
PubMed 21895641
PubMed 11700157
PubMed 11700157
PubMed 16220557
PubMed 19293843
PubMed 19293843
PubMed 22876116
PubMed 21542060
PubMed 16222657
PubMed 24793577
PubMed 17627385
PubMed 16222657
PubMed 19839986
PubMed 15241795
PubMed 21542060
PubMed 11139245
PubMed 18435798
PubMed 17027361
PubMed 17253931
PubMed 9399842
PubMed 19293843
PubMed 19802897
PubMed 19293843
PubMed 19839986
PubMed 17627385
PubMed 17657824
PubMed 19293843
PubMed 16476890
PubMed 19839986
PubMed 24793577
PubMed 10464652
PubMed 23506379
PubMed 21542060
PubMed 17627385
PubMed 15241795
PubMed 19293843
PubMed 10464652
PubMed 8281141
PubMed 19293843
PubMed 12402346
PubMed 15241795
PubMed 18435798
PubMed 23684891
PubMed 7622614
PubMed 16222657
PubMed 19293843
PubMed 12203987
PubMed 11170092
PubMed 20886638
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM093610
CM013922
CM098670
CM022003
CM093611
CM950440
CM098671
CM065180
CM096443
CM067395
CM091207
CM074811
CM074813
CM100475
CM098672
CM062714
CM960628
CM015152
CM990588
CM145733
CM980726
CM983864
CM995300
CM076184
CM085429
CM950441
CM983865
CM118911
CM062715
CM010035
CM940762
CM106076
CM014706
CM096444
CM010036
CM136187
CM972803
CM062708
CM085409
CM970510
CM055254
CM040035
CM100476
CM960629
CM960630
CM960631
CM056958
CM013923
CM013924
CM054699
CM098673
CM020686
CM960632
GAT‐CAT
GAA‐GGA
TGT‐AGT
TGT‐GGT
TGT‐TGA
TGT‐CGT
TGT‐GGT
TGT‐TAT
ACT‐CCT
TGT‐CGT
CGC‐CAC
CGC‐TGC
CGC‐CAC
TGC‐AGC
TGC‐TAC
TGC‐TCC
GTC‐ATC
GGG‐AGG
GGG‐GAG
GCA‐ACA
GAG‐TAG
TGT‐CGT
ATG‐GTG
TGT‐CGT
TGT‐TAT
GGA‐AGA
GGA‐CGA
GCC‐CCC
GCC‐ACC
ACA‐GCA
AAG‐AAC
GAT‐TAT
GAT‐GTT
GAG‐TAG
TGC‐TAC
CTC‐TTC
TGC‐TAC
GGC‐GAC
GGC‐AGC
AAG‐AGG
TGC‐TGA
TGC‐TAC
AAC‐AGC
ATT‐ACT
TGC‐CGC
TGT‐GGT
TGT‐AGT
TGT‐TGG
TGT‐TAT
GGC‐GAC
TCT‐TGT
GAC‐GGC
ATT‐AGT
Asp910His
Glu913Gly
Cys914Ser
Cys921Gly
Cys921Term
Cys926Arg
Cys926Gly
Cys926Tyr
Thr929Pro
Cys950Arg
Arg954His
Arg974Cys
Arg976His
Cys980Ser
Cys980Tyr
Cys981Ser
Val984Ile
Gly985Arg
Gly985Glu
Ala986Thr
Glu994Term
Cys996Arg
Met998Val
Cys1008Arg
Cys1008Tyr
Gly1013Arg
Gly1013Arg
Ala1015Pro
Ala1015Thr
Thr1020Ala
Lys1023Asn
Asp1028Tyr
Asp1028Val
Glu1031Term
Cys1032Tyr
Leu1038Phe
Cys1039Tyr
Gly1042Asp
Gly1042Ser
Lys1043Arg
Cys1044Term
Cys1044Tyr
Asn1046Ser
Ile1048Thr
Cys1053Arg
Cys1055Gly
Cys1055Ser
Cys1055Trp
Cys1055Tyr
Gly1058Asp
Ser1063Cys
Asp1070Gly
Ile1071Ser
2728G>C
2738A>G
2740T>A
2761T>G
2763T>A
2776T>C
2776T>G
2777G>A
2785A>C
2848T>C
2861G>A
2920C>T
2927G>A
2938T>A
2939G>A
2942G>C
2950G>A
2953G>A
2954G>A
2956G>A
2980G>T
2986T>C
2992A>G
3022T>C
3023G>A
3037G>A
3037G>C
3043G>C
3043G>A
3058A>G
3069G>C
3082G>T
3083A>T
3091G>T
3095G>A
3112C>T
3116G>A
3125G>A
3124G>A
3128A>G
3132C>A
3131G>A
3137A>G
3143T>C
3157T>C
3163T>G
3163T>A
3165T>G
3164G>A
3173G>A
3188C>G
3209A>G
3212T>G
D910H
E913G
C914S
C921G
C921*
C926R
C926G
C926Y
T929P
C950R
R954H
R974C
R976H
C980S
C980Y
C981S
V984I
G985R
G985E
A986T
E994*
C996R
M998V
C1008R
C1008Y
G1013R
G1013R
A1015P
A1015T
T1020A
K1023N
D1028Y
D1028V
E1031*
C1032Y
L1038F
C1039Y
G1042D
G1042S
K1043R
C1044*
C1044Y
N1046S
I1048T
C1053R
C1055G
C1055S
C1055W
C1055Y
G1058D
S1063C
D1070G
I1071S
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Chung (2009) Am J Med Genet A 149A:1452
Loeys (2001) Arch Intern Med 161:2447
Stheneur (2009) Eur J Hum Genet 17:1121
Robinson (2002) Hum Mutat 20:153
Chung (2009) Am J Med Genet A 149A:1452
Nijbroek (1995) Am J Hum Genet 57:8
Stheneur (2009) Eur J Hum Genet 17:1121
Ganesh (2006) Arch Ophthalmol 124:205
Hung (2009) Ann Hum Genet 73:559
Tjeldhorn (2006) Genet Test 10:258
Söylen (2009) Clin Genet 75:265
Comeglio (2007) Hum Mutat 28:928
Comeglio (2007) Hum Mutat 28:928
Yoo (2010) Clin Genet 77:177
Stheneur (2009) Eur J Hum Genet 17:1121
Sakai (2006) Am J Med Genet A 140A:1719
Grau (1996) Eur J Pediatr 155:739
Loeys (2001) Arch Intern Med 161:2447
Collod‐Beroud (1999) Am J Hum Genet 65:917
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Karttunen (1998) Hum Mutat S1:S34
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Yuan (1999) Hum Mutat 14:440
Qin (2007) Neuro Endocrinol Lett 28:629
Attanasio (2008) Clin Genet 74:39
Nijbroek (1995) Am J Hum Genet 57:8
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Lebreiro (2011) Rev Port Cardiol 30:649
Sakai (2006) Am J Med Genet A 140A:1719
Tiecke (2001) Eur J Hum Genet 9:13
Kainulainen (1994) Nat Genet 6:64
Evangelisti (2010) Eur J Med Genet 53:299
Ivan (2001) Chin Med J (Engl) 114:473
Hung (2009) Ann Hum Genet 73:559
Ng (1999) J Paediatr Child Health 35:321
Classen (2013) Hum Genet 132:825
Liu (1997) Genet Test 1:237
Sakai (2006) Am J Med Genet A 140A:1719
Attanasio (2008) Clin Genet 74:39
Wang (1997) Hum Mutat 9:359
Rommel (2005) Hum Mutat 26:529
Biggin (2004) Hum Mutat 23:99
Yoo (2010) Clin Genet 77:177
Lonnqvist (1996) Genomics 36:468
Putnam (1996) Am J Med Genet 62:233
Ades (1996) J Med Genet 33:665
Baumgartner (2005) Methods Inf Med 44:487
Loeys (2001) Arch Intern Med 161:2447
Loeys (2001) Arch Intern Med 161:2447
Arbustini (2005) Hum Mutat 26:494
Stheneur (2009) Eur J Hum Genet 17:1121
Matyas (2002) Hum Mutat 19:443
Wang (1996) J Med Genet 33:760
PubMed 19533785
PubMed 11700157
PubMed 19293843
PubMed 12203987
PubMed 19533785
PubMed 7611299
PubMed 19293843
PubMed 16476890
PubMed 19839986
PubMed 17253931
PubMed 19159394
PubMed 17657824
PubMed 17657824
PubMed 19863550
PubMed 19293843
PubMed 16835936
PubMed: No PubMed ID
PubMed 11700157
PubMed 10441597
PubMed 24793577
PubMed 9452033
PubMed 9399842
PubMed 10533071
PubMed 17984934
PubMed 18435798
PubMed 7611299
PubMed 9399842
PubMed 22005308
PubMed 16835936
PubMed 11175294
PubMed 8136837
PubMed 20538085
PubMed 11780406
PubMed 19839986
PubMed 10404462
PubMed 23552953
PubMed 10464652
PubMed 16835936
PubMed 18435798
PubMed 9101298
PubMed 16220557
PubMed 14695540
PubMed 19863550
PubMed 8884270
PubMed 8882780
PubMed 8863159
PubMed 16342915
PubMed 11700157
PubMed 11700157
PubMed 16222657
PubMed 19293843
PubMed 11933199
PubMed 8880577
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM960633
CM960634
CM950442
CM950443
HM971939
CM972804
CM020687
CM078031
CM950444
CM992323
CM074790
CM117996
CM117712
CM077271
CM127646
CM042040
CM013925
CM100465
CM127282
CM972805
CM055248
CM010038
CM960635
CM930245
CM1312097
CM055245
CM990589
CM093612
CM098674
CM145735
CM970511
CM085419
CM910154
CM098675
CM145736
CM098676
CM074857
CM074851
CM995301
CM096445
CM054719
CM960636
CM960637
CM108649
CM074817
CM980727
CM117997
CM940763
CM992324
CM095637
CM970512
CM970513
CM983866
GAC‐GGC
GAA‐GAT
GAA‐AAA
TGC‐CGC
TGC‐TAC
TCT‐CCT
TGT‐GGT
TGT‐CGT
TGT‐TGG
TGT‐TAT
AAC‐ATC
AAC‐AGC
CCT‐TCT
TGC‐TGA
GAA‐TAA
GGC‐GTC
TAT‐TGT
GAA‐TAA
TGC‐TAC
GAT‐GGT
GAT‐GTT
GAT‐GGT
TGT‐GGT
TGT‐TAT
TGC‐TTC
CGA‐TGA
TGC‐TAC
CAT‐CCT
AAC‐AAG
AAC‐AGC
AAC‐TAC
TAC‐TAG
CGC‐CCC
TGT‐GGT
TGT‐TTT
TGT‐TCT
TGT‐TAT
TGC‐TGA
CCG‐CTG
GCG‐GTG
TGT‐TCT
TGT‐TAT
GAC‐AAC
GAC‐GGC
GAA‐GGA
TGC‐TAC
AAT‐AGT
CGT‐CAT
TGC‐CGC
TGC‐TGA
TGC‐TGG
AAC‐AAG
ATA‐ACA
Asp1072Gly
Glu1073Asp
Glu1073Lys
Cys1074Arg
Cys1074Tyr
Ser1077Pro
Cys1081Gly
Cys1086Arg
Cys1086Trp
Cys1086Tyr
Asn1088Ile
Asn1088Ser
Pro1090Ser
Cys1095Term
Glu1099Term
Gly1100Val
Tyr1101Cys
Glu1102Term
Cys1111Tyr
Asp1113Gly
Asp1113Val
Asp1115Gly
Cys1117Gly
Cys1117Tyr
Cys1124Phe
Arg1125Term
Cys1129Tyr
His1130Pro
Asn1131Lys
Asn1131Ser
Asn1131Tyr
Tyr1136Term
Arg1137Pro
Cys1138Gly
Cys1138Phe
Cys1138Ser
Cys1138Tyr
Cys1140Term
Pro1141Leu
Ala1152Val
Cys1153Ser
Cys1153Tyr
Asp1155Asn
Asp1155Gly
Glu1158Gly
Cys1166Tyr
Asn1168Ser
Arg1170His
Cys1171Arg
Cys1171Term
Cys1171Trp
Asn1173Lys
Ile1175Thr
3215A>G
3219A>T
3217G>A
3220T>C
3221G>A
3229T>C
3241T>G
3256T>C
3258T>G
3257G>A
3263A>T
3263A>G
3268C>T
3285C>A
3295G>T
3299G>T
3302A>G
3304G>T
3332G>A
3338A>G
3338A>T
3344A>G
3349T>G
3350G>A
3371G>T
3373C>T
3386G>A
3389A>C
3393C>G
3392A>G
3391A>T
3408C>G
3410G>C
3412T>G
3413G>T
3413G>C
3413G>A
3420C>A
3422C>T
3455C>T
3458G>C
3458G>A
3463G>A
3464A>G
3473A>G
3497G>A
3503A>G
3509G>A
3511T>C
3513C>A
3513C>G
3519C>G
3524T>C
D1072G
E1073D
E1073K
C1074R
C1074Y
S1077P
C1081G
C1086R
C1086W
C1086Y
N1088I
N1088S
P1090S
C1095*
E1099*
G1100V
Y1101C
E1102*
C1111Y
D1113G
D1113V
D1115G
C1117G
C1117Y
C1124F
R1125*
C1129Y
H1130P
N1131K
N1131S
N1131Y
Y1136*
R1137P
C1138G
C1138F
C1138S
C1138Y
C1140*
P1141L
A1152V
C1153S
C1153Y
D1155N
D1155G
E1158G
C1166Y
N1168S
R1170H
C1171R
C1171*
C1171W
N1173K
I1175T
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Putnam (1996) Am J Med Genet 62:233
Wang (1996) J Med Genet 33:760
Nijbroek (1995) Am J Hum Genet 57:8
Kainulainen (1994) Nat Genet 6:64
Comeglio (2001) Hum Genet 109:468
Liu (1997) Genet Test 1:237
Matyas (2002) Hum Mutat 19:443
Sutherell (2007) Congenit Heart Dis 2:342
Matthews (1995) Am J Hum Genet 57S:A339
Schrijver (1999) Am J Hum Genet 65:1007
Comeglio (2007) Hum Mutat 28:928
Ogawa (2011) Am J Cardiol 108:1801
Baetens (2011) Hum Mutat 32:1053
Howarth (2007) Genet Test 11:146
Cui (2012) Orphanet J Rare Dis 7:
Loeys (2004) Hum Mutat 24:140
Loeys (2001) Arch Intern Med 161:2447
Yoo (2010) Clin Genet 77:177
Robinson (2012) Clin Genet 82:223
Liu (1997) Genet Test 1:237
Rommel (2005) Hum Mutat 26:529
Tiecke (2001) Eur J Hum Genet 9:13
Putnam (1996) Am J Med Genet 62:233
Tynan (1993) Hum Mol Genet 2:1813
Aalberts (2014) Gene 534:40
Rommel (2005) Hum Mutat 26:529
El‐Aleem (1999) Hum Mutat 14:181
Chung (2009) Am J Med Genet A 149A:1452
Stheneur (2009) Eur J Hum Genet 17:1121
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Wang (1997) Hum Mutat 9:359
Attanasio (2008) Clin Genet 74:39
Dietz (1991) Nature 352:337
Stheneur (2009) Eur J Hum Genet 17:1121
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Stheneur (2009) Eur J Hum Genet 17:1121
Comeglio (2007) Hum Mutat 28:928
Comeglio (2007) Hum Mutat 28:928
Yuan (1999) Hum Mutat 14:440
Hung (2009) Ann Hum Genet 73:559
Arbustini (2005) Hum Mutat 26:494
Ades (1996) J Med Genet 33:665
Milewicz (1996) Circulation 94:2708
Hilhorst‐Hofstee (2010) Hum Mutat 31:E1915
Comeglio (2007) Hum Mutat 28:928
Perez (1998) Hum Mutat 13:84
Ogawa (2011) Am J Cardiol 108:1801
Hayward (1994) Mol Cell Probes 8:325
Schrijver (1999) Am J Hum Genet 65:1007
Magyar (2009) Hum Mutat 30:1355
Hayward (1997) Hum Mutat 10:280
Hayward (1997) Hum Mutat 10:280
Collod‐Beroud (1998) Nucleic Acids Res 26:229
PubMed 8882780
PubMed 8880577
PubMed 7611299
PubMed 8136837
Source: Online submission
PubMed 10464652
PubMed 11933199
PubMed 18377451
Source: Meeting abstract
PubMed 10486319
PubMed 17657824
PubMed 21907952
PubMed 21542060
PubMed 17627385
PubMed 22913777
PubMed 15241795
PubMed 11700157
PubMed 19863550
PubMed 21895641
PubMed 10464652
PubMed 16220557
PubMed 11175294
PubMed 8882780
PubMed 8281141
PubMed 24161884
PubMed 16220557
PubMed 10425041
PubMed 19533785
PubMed 19293843
PubMed 24793577
PubMed 9101298
PubMed 18435798
PubMed 1852208
PubMed 19293843
PubMed 24793577
PubMed 19293843
PubMed 17657824
PubMed 17657824
PubMed 10533071
PubMed 19839986
PubMed 16222657
PubMed 8863159
PubMed 8941093
PubMed 20886638
PubMed 17657824
PubMed 10189222
PubMed 21907952
PubMed 7870075
PubMed 10486319
PubMed 19618372
PubMed 9338581
PubMed 9338581
PubMed 9399842
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM067388
CM098677
CM098678
CM980728
CM972857
CM117713
CM020688
CM098679
CM130606
CM990590
CM118003
CM081261
CM054708
CM074815
CM940764
CM088213
CM118912
CM117624
CM055941
CM995302
CM010039
CM098681
CM940765
CM074816
CM950446
CM1314085
CM004133
CM972806
CM054700
CM990591
CM091208
CM980729
CM098683
CM085430
CM020689
CM054720
CM972807
CM091209
CM055250
CM117714
CM010040
CM074858
CM099390
CM077262
CM085410
CM1312098
CM972808
CM054723
CM077258
CM108650
CM040036
CM010041
CM992325
GGG‐AGG
TAT‐TGT
TGT‐CGT
TGC‐TCC
TGC‐TGG
GGC‐GAC
TAC‐TGC
TGT‐TAT
GAT‐GCT
GAA‐GGA
TGC‐TGA
TGC‐TAC
TAT‐TGT
TGT‐CGT
TGT‐TAT
CAG‐CAT
GGA‐TGA
TCA‐CCA
TGC‐CGC
GAC‐AAC
GAC‐GGC
GAG‐GGG
TGT‐TAT
TGT‐CGT
TGT‐TCT
TGC‐CGC
TGC‐AGC
GAG‐TAG
TAC‐GAC
TAC‐TGC
TGC‐CGC
TGT‐CGT
TGT‐GGT
TGT‐TAT
TAT‐TTT
TGT‐TCT
AAT‐AGT
TGT‐CGT
TGT‐GGT
TGT‐TAT
AAA‐GAA
TGT‐TAT
GGC‐GAC
GGC‐GTC
TGT‐CGT
TGT‐TTT
TGT‐AGT
TGT‐TGA
GAC‐GGC
GAC‐CAC
GAA‐CAA
GAA‐TAA
TGT‐CGT
Gly1176Arg
Tyr1178Cys
Cys1180Arg
Cys1182Ser
Cys1182Trp
Gly1185Asp
Tyr1186Cys
Cys1195Tyr
Asp1199Ala
Glu1200Gly
Cys1201Term
Cys1201Tyr
Tyr1219Cys
Cys1223Arg
Cys1223Tyr
Gln1224His
Gly1226Term
Ser1235Pro
Cys1236Arg
Asp1238Asn
Asp1238Gly
Glu1241Gly
Cys1242Tyr
Cys1249Arg
Cys1249Ser
Cys1254Arg
Cys1254Ser
Glu1260Term
Tyr1261Asp
Tyr1261Cys
Cys1263Arg
Cys1265Arg
Cys1265Gly
Cys1265Tyr
Tyr1266Phe
Cys1278Ser
Asn1282Ser
Cys1284Arg
Cys1284Gly
Cys1284Tyr
Lys1300Glu
Cys1307Tyr
Gly1310Asp
Gly1310Val
Cys1320Arg
Cys1320Phe
Cys1320Ser
Cys1320Term
Asp1322Gly
Asp1322His
Glu1325Gln
Glu1325Term
Cys1326Arg
3526G>A
3533A>G
3538T>C
3545G>C
3546C>G
3554G>A
3557A>G
3584G>A
3596A>C
3599A>G
3603C>A
3602G>A
3656A>G
3667T>C
3668G>A
3672G>T
3676G>T
3703T>C
3706T>C
3712G>A
3713A>G
3722A>G
3725G>A
3745T>C
3746G>C
3760T>C
3760T>A
3778G>T
3781T>G
3782A>G
3787T>C
3793T>C
3793T>G
3794G>A
3797A>T
3833G>C
3845A>G
3850T>C
3850T>G
3851G>A
3898A>G
3920G>A
3929G>A
3929G>T
3958T>C
3959G>T
3958T>A
3960T>A
3965A>G
3964G>C
3973G>C
3973G>T
3976T>C
G1176R
Y1178C
C1180R
C1182S
C1182W
G1185D
Y1186C
C1195Y
D1199A
E1200G
C1201*
C1201Y
Y1219C
C1223R
C1223Y
Q1224H
G1226*
S1235P
C1236R
D1238N
D1238G
E1241G
C1242Y
C1249R
C1249S
C1254R
C1254S
E1260*
Y1261D
Y1261C
C1263R
C1265R
C1265G
C1265Y
Y1266F
C1278S
N1282S
C1284R
C1284G
C1284Y
K1300E
C1307Y
G1310D
G1310V
C1320R
C1320F
C1320S
C1320*
D1322G
D1322H
E1325Q
E1325*
C1326R
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Valiev (2006) Mol Biol (Mosk) 40:1021
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Perez (1998) Hum Mutat 13:84
Pepe (1997) J Mol Cell Cardiol 29:1877
Baetens (2011) Hum Mutat 32:1053
Matyas (2002) Hum Mutat 19:443
Stheneur (2009) Eur J Hum Genet 17:1121
Wang (2013) J Mol Med (Berl) 91:37
Rantamaki (1999) Am J Hum Genet 64:993
Ogawa (2011) Am J Cardiol 108:1801
Derbent (2008) Clin Dysmorphol 17:127
Arbustini (2005) Hum Mutat 26:494
Comeglio (2007) Hum Mutat 28:928
Hewett (1994) J Med Genet 31:338
Rybczynski (2008) Am J Med Genet A 146A:3157
Lebreiro (2011) Rev Port Cardiol 30:649
Meng (2011) Mol Vis 17:2421
ter Heide (2005) Clin Dysmorphol 14:81
Yuan (1999) Hum Mutat 14:440
Tiecke (2001) Eur J Hum Genet 9:13
Stheneur (2009) Eur J Hum Genet 17:1121
Kainulainen (1994) Nat Genet 6:64
Comeglio (2007) Hum Mutat 28:928
Dietz (1995) Hum Mol Genet 4:1799
Pees (2013) Clin Genet epub:epub
Oh (2000) Pediatr Int 42:488
Liu (1997) Genet Test 1:237
Arbustini (2005) Hum Mutat 26:494
El‐Aleem (1999) Hum Mutat 14:181
Söylen (2009) Clin Genet 75:265
Montgomery (1998) Am J Hum Genet 63:1703
Stheneur (2009) Eur J Hum Genet 17:1121
Attanasio (2008) Clin Genet 74:39
Matyas (2002) Hum Mutat 19:443
Arbustini (2005) Hum Mutat 26:494
Liu (1997) Genet Test 1:237
Söylen (2009) Clin Genet 75:265
Rommel (2005) Hum Mutat 26:529
Baetens (2011) Hum Mutat 32:1053
Tiecke (2001) Eur J Hum Genet 9:13
Comeglio (2007) Hum Mutat 28:928
Hung (2009) Ann Hum Genet 73:559
Howarth (2007) Genet Test 11:146
Attanasio (2008) Clin Genet 74:39
Aalberts (2014) Gene 534:40
Liu (1997) Genet Test 1:237
Arbustini (2005) Hum Mutat 26:494
Howarth (2007) Genet Test 11:146
Hilhorst‐Hofstee (2010) Hum Mutat 31:E1915
Biggin (2004) Hum Mutat 23:99
Tiecke (2001) Eur J Hum Genet 9:13
Schrijver (1999) Am J Hum Genet 65:1007
PubMed 17209430
PubMed 19293843
PubMed 19293843
PubMed 10189222
PubMed 9236141
PubMed 21542060
PubMed 11933199
PubMed 19293843
PubMed 22772377
PubMed 10090884
PubMed 21907952
PubMed 18388785
PubMed 16222657
PubMed 17657824
PubMed 8071963
PubMed 19012347
PubMed 22005308
PubMed 21976953
PubMed 15770129
PubMed 10533071
PubMed 11175294
PubMed 19293843
PubMed 8136837
PubMed 17657824
PubMed 8541880
PubMed 24199744
PubMed 11059536
PubMed 10464652
PubMed 16222657
PubMed 10425041
PubMed 19159394
PubMed 9837823
PubMed 19293843
PubMed 18435798
PubMed 11933199
PubMed 16222657
PubMed 10464652
PubMed 19159394
PubMed 16220557
PubMed 21542060
PubMed 11175294
PubMed 17657824
PubMed 19839986
PubMed 17627385
PubMed 18435798
PubMed 24161884
PubMed 10464652
PubMed 16222657
PubMed 17627385
PubMed 20886638
PubMed 14695540
PubMed 11175294
PubMed 10486319
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM054698
CM983867
CM145760
CM013927
CM972809
CM098684
CM096446
CM118910
CM077281
CM074869
CM020135
CM117720
CM098685
CM098686
CM992326
CM040037
CM043996
CM062702
CM088214
CM040038
CM098687
CM077266
CM077247
CM950447
CM130607
CM098689
CM040039
CM088215
CM054712
CM130608
CM054725
CM992327
CM012599
CM970514
CM088218
CM010042
CM010043
CM098690
CM100477
CM004134
CM983868
CM054685
CM117998
CM983869
CM1312099
CM1312100
CM117722
CM117721
CM067398
CM091210
CM098691
CM147406
CM077255
TGT‐AGT
GCT‐CCT
TGT‐TCT
TGT‐TAT
AAT‐AGT
GCA‐ACA
GGA‐AGA
TTC‐TGC
TTC‐TTG
TTC‐TCC
TGT‐TGA
TGC‐TTC
TGC‐TAC
GGG‐AGG
TGC‐TAC
GAA‐AAA
GAA‐TAA
TGT‐CGT
TGC‐GGC
TGC‐TCC
TGC‐TAC
TGC‐TAC
AAT‐AAA
AAT‐AGT
ATG‐TTG
TAC‐TGC
TGT‐CGT
TGC‐TTC
TGC‐TGA
GAT‐AAT
TGT‐CGT
TGT‐TGG
TGT‐TAT
GAC‐TAC
CTT‐CGT
GAT‐GGT
TGC‐TTC
TGC‐TTC
TGC‐TGG
CTC‐TTC
CCA‐GCA
CCA‐TCA
TAC‐TGC
TGT‐AGT
TGT‐TAT
TGC‐CGC
TGC‐TGG
TGC‐TAC
TGC‐GGC
TGC‐TAC
TGT‐TCT
TGC‐CGC
TGT‐CGT
Cys1333Ser
Ala1337Pro
Cys1339Ser
Cys1339Tyr
Asn1341Ser
Ala1343Thr
Gly1344Arg
Phe1346Cys
Phe1346Leu
Phe1346Ser
Cys1348Term
Cys1350Phe
Cys1350Tyr
Gly1353Arg
Cys1361Tyr
Glu1366Lys
Glu1366Term
Cys1367Arg
Cys1374Gly
Cys1374Ser
Cys1374Tyr
Cys1380Tyr
Asn1382Lys
Asn1382Ser
Met1384Leu
Tyr1387Cys
Cys1389Arg
Cys1391Phe
Cys1391Term
Asp1398Asn
Cys1402Arg
Cys1402Trp
Cys1402Tyr
Asp1404Tyr
Leu1405Arg
Asp1406Gly
Cys1408Phe
Cys1420Phe
Cys1420Trp
Leu1421Phe
Pro1424Ala
Pro1424Ser
Tyr1427Cys
Cys1429Ser
Cys1429Tyr
Cys1431Arg
Cys1431Trp
Cys1431Tyr
Cys1450Gly
Cys1450Tyr
Cys1456Ser
Cys1461Arg
Cys1470Arg
3997T>A
4009G>C
4016G>C
4016G>A
4022A>G
4027G>A
4030G>A
4037T>G
4038C>G
4037T>C
4044T>A
4049G>T
4049G>A
4057G>A
4082G>A
4096G>A
4096G>T
4099T>C
4120T>G
4121G>C
4121G>A
4139G>A
4146T>A
4145A>G
4150A>T
4160A>G
4165T>C
4172G>T
4173C>A
4192G>A
4204T>C
4206T>G
4205G>A
4210G>T
4214T>G
4217A>G
4223G>T
4259G>T
4260C>G
4261C>T
4270C>G
4270C>T
4280A>G
4285T>A
4286G>A
4291T>C
4293C>G
4292G>A
4348T>G
4349G>A
4367G>C
4381T>C
4408T>C
C1333S
A1337P
C1339S
C1339Y
N1341S
A1343T
G1344R
F1346C
F1346L
F1346S
C1348*
C1350F
C1350Y
G1353R
C1361Y
E1366K
E1366*
C1367R
C1374G
C1374S
C1374Y
C1380Y
N1382K
N1382S
M1384L
Y1387C
C1389R
C1391F
C1391*
D1398N
C1402R
C1402W
C1402Y
D1404Y
L1405R
D1406G
C1408F
C1420F
C1420W
L1421F
P1424A
P1424S
Y1427C
C1429S
C1429Y
C1431R
C1431W
C1431Y
C1450G
C1450Y
C1456S
C1461R
C1470R
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Arbustini (2005) Hum Mutat 26:494
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Loeys (2001) Arch Intern Med 161:2447
Liu (1997) Genet Test 1:237
Stheneur (2009) Eur J Hum Genet 17:1121
Hung (2009) Ann Hum Genet 73:559
Lebreiro (2011) Rev Port Cardiol 30:649
Howarth (2007) Genet Test 11:146
Comeglio (2007) Hum Mutat 28:928
Korkko (2002) J Med Genet 39:34
Baetens (2011) Hum Mutat 32:1053
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Schrijver (1999) Am J Hum Genet 65:1007
Biggin (2004) Hum Mutat 23:99
Uyeda (2004) J Hum Genet 49:404
Sakai (2006) Am J Med Genet A 140A:1719
Rybczynski (2008) Am J Med Genet A 146A:3157
Biggin (2004) Hum Mutat 23:99
Stheneur (2009) Eur J Hum Genet 17:1121
Howarth (2007) Genet Test 11:146
Howarth (2007) Genet Test 11:146
Nijbroek (1995) Am J Hum Genet 57:8
Wang (2013) J Mol Med (Berl) 91:37
Stheneur (2009) Eur J Hum Genet 17:1121
Biggin (2004) Hum Mutat 23:99
Rybczynski (2008) Am J Med Genet A 146A:3157
Arbustini (2005) Hum Mutat 26:494
Wang (2013) J Mol Med (Berl) 91:37
Arbustini (2005) Hum Mutat 26:494
Schrijver (1999) Am J Hum Genet 65:1007
Comeglio (2001) Hum Mutat 18:251
Hayward (1997) Hum Mutat 10:280
Rybczynski (2008) Am J Med Genet A 146A:3157
Tiecke (2001) Eur J Hum Genet 9:13
Tiecke (2001) Eur J Hum Genet 9:13
Stheneur (2009) Eur J Hum Genet 17:1121
Yoo (2010) Clin Genet 77:177
Oh (2000) Pediatr Int 42:488
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Arbustini (2005) Hum Mutat 26:494
Ogawa (2011) Am J Cardiol 108:1801
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Aalberts (2014) Gene 534:40
Aalberts (2014) Gene 534:40
Baetens (2011) Hum Mutat 32:1053
Baetens (2011) Hum Mutat 32:1053
Tjeldhorn (2006) Genet Test 10:258
Söylen (2009) Clin Genet 75:265
Stheneur (2009) Eur J Hum Genet 17:1121
Li (2014) Mol Vis 20:1017
Howarth (2007) Genet Test 11:146
PubMed 16222657
PubMed 9399842
PubMed 24793577
PubMed 11700157
PubMed 10464652
PubMed 19293843
PubMed 19839986
PubMed 22005308
PubMed 17627385
PubMed 17657824
PubMed 11826022
PubMed 21542060
PubMed 19293843
PubMed 19293843
PubMed 10486319
PubMed 14695540
PubMed 15221638
PubMed 16835936
PubMed 19012347
PubMed 14695540
PubMed 19293843
PubMed 17627385
PubMed 17627385
PubMed 7611299
PubMed 22772377
PubMed 19293843
PubMed 14695540
PubMed 19012347
PubMed 16222657
PubMed 22772377
PubMed 16222657
PubMed 10486319
PubMed 11524736
PubMed 9338581
PubMed 19012347
PubMed 11175294
PubMed 11175294
PubMed 19293843
PubMed 19863550
PubMed 11059536
PubMed 9399842
PubMed 16222657
PubMed 21907952
PubMed 9399842
PubMed 24161884
PubMed 24161884
PubMed 21542060
PubMed 21542060
PubMed 17253931
PubMed 19159394
PubMed 19293843
PubMed 25053872
PubMed 17627385
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM020690
CM055242
CM098692
CM972810
CM074814
CM077267
CM117723
CM117724
CM118913
CM091211
CM980730
CM062705
CM065181
CM145766
CM940766
CM065178
CM001687
CM096448
CM074841
CM085426
CM010044
CM993159
CM145768
CM098693
CM054721
CM040040
CM118004
CM055243
CM940767
CM013929
CM127267
CM930246
CM118005
CM127283
CM062709
CM972811
CM970515
CM096449
CM074803
CM098617
CM054701
CM096453
CM067396
CM013931
CM145769
CM145770
CM003138
CM096454
CM100095
CM920268
CM062717
CM054716
CM972812
TGT‐TAT
GGC‐AGC
TAC‐TGC
GAA‐TAA
TGC‐CGC
TGC‐TAC
GAT‐GCT
AAT‐AAA
TGC‐TTC
TGC‐TAC
TGC‐TCC
AGT‐TGT
TGT‐TAT
TGT‐CGT
TGC‐CGC
TGC‐TGG
CGA‐TGA
TGT‐TAT
GAT‐TAT
TGC‐TGA
CGA‐TGA
CGA‐TGA
ACA‐ATA
TGC‐TGG
TGT‐TTT
TGT‐TAT
TGG‐TAG
ATG‐ACG
GTG‐GGG
GAG‐TAG
TAC‐AAC
TGT‐TTT
GAA‐TAA
GGT‐AGT
GGT‐GTT
GAA‐AAA
TGC‐GGC
CAA‐TAA
TGT‐CGT
CAG‐TAG
TGC‐GGC
CGC‐CAC
GAT‐GGT
CGA‐TGA
TGT‐TAT
GAT‐AAT
TGT‐TAT
TGT‐TTT
GGG‐AGG
TGT‐CGT
TGT‐TTT
TGT‐TAT
GTT‐ATT
Cys1470Tyr
Gly1475Ser
Tyr1476Cys
Glu1477Term
Cys1485Arg
Cys1485Tyr
Asp1487Ala
Asn1489Lys
Cys1491Phe
Cys1491Tyr
Cys1497Ser
Ser1499Cys
Cys1502Tyr
Cys1511Arg
Cys1513Arg
Cys1513Trp
Arg1523Term
Cys1526Tyr
Asp1528Tyr
Cys1534Term
Arg1539Term
Arg1541Term
Thr1547Ile
Cys1563Trp
Cys1564Phe
Cys1564Tyr
Trp1570Term
Met1576Thr
Val1580Gly
Glu1584Term
Tyr1585Asn
Cys1589Phe
Glu1593Term
Gly1594Ser
Gly1594Val
Glu1605Lys
Cys1610Gly
Gln1618Term
Cys1622Arg
Gln1630Term
Cys1631Gly
Arg1632His
Asp1642Gly
Arg1644Term
Cys1646Tyr
Asp1648Asn
Cys1652Tyr
Cys1658Phe
Gly1661Arg
Cys1663Arg
Cys1663Phe
Cys1663Tyr
Val1667Ile
4409G>A
4423G>A
4427A>G
4429G>T
4453T>C
4454G>A
4460A>C
4467T>A
4472G>T
4472G>A
4490G>C
4495A>T
4505G>A
4531T>C
4537T>C
4539C>G
4567C>T
4577G>A
4582G>T
4602C>A
4615C>T
4621C>T
4640C>T
4689C>G
4691G>T
4691G>A
4709G>A
4727T>C
4739T>G
4750G>T
4753T>A
4766G>T
4777G>T
4780G>A
4781G>T
4813G>A
4828T>G
4852C>T
4864T>C
4888C>T
4891T>G
4895G>A
4925A>G
4930C>T
4937G>A
4942G>A
4955G>A
4973G>T
4981G>A
4987T>C
4988G>T
4988G>A
4999G>A
C1470Y
G1475S
Y1476C
E1477*
C1485R
C1485Y
D1487A
N1489K
C1491F
C1491Y
C1497S
S1499C
C1502Y
C1511R
C1513R
C1513W
R1523*
C1526Y
D1528Y
C1534*
R1539*
R1541*
T1547I
C1563W
C1564F
C1564Y
W1570*
M1576T
V1580G
E1584*
Y1585N
C1589F
E1593*
G1594S
G1594V
E1605K
C1610G
Q1618*
C1622R
Q1630*
C1631G
R1632H
D1642G
R1644*
C1646Y
D1648N
C1652Y
C1658F
G1661R
C1663R
C1663F
C1663Y
V1667I
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Matyas (2002) Hum Mutat 19:443
Rommel (2005) Hum Mutat 26:529
Stheneur (2009) Eur J Hum Genet 17:1121
Liu (1997) Genet Test 1:237
Comeglio (2007) Hum Mutat 28:928
Howarth (2007) Genet Test 11:146
Baetens (2011) Hum Mutat 32:1053
Baetens (2011) Hum Mutat 32:1053
Lebreiro (2011) Rev Port Cardiol 30:649
Söylen (2009) Clin Genet 75:265
Perez (1998) Hum Mutat 13:84
Sakai (2006) Am J Med Genet A 140A:1719
Ganesh (2006) Arch Ophthalmol 124:205
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Kainulainen (1994) Nat Genet 6:64
Ganesh (2006) Arch Ophthalmol 124:205
Youil (2000) Hum Mutat 16:92
Hung (2009) Ann Hum Genet 73:559
Comeglio (2007) Hum Mutat 28:928
Attanasio (2008) Clin Genet 74:39
Tiecke (2001) Eur J Hum Genet 9:13
Halliday (1999) Hum Genet 105:587
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Stheneur (2009) Eur J Hum Genet 17:1121
Arbustini (2005) Hum Mutat 26:494
Biggin (2004) Hum Mutat 23:99
Ogawa (2011) Am J Cardiol 108:1801
Rommel (2005) Hum Mutat 26:529
Kainulainen (1994) Nat Genet 6:64
Loeys (2001) Arch Intern Med 161:2447
Sheikhzadeh (2012) Clin Genet 82:240
Tynan (1993) Hum Mol Genet 2:1813
Ogawa (2011) Am J Cardiol 108:1801
Robinson (2012) Clin Genet 82:223
Sakai (2006) Am J Med Genet A 140A:1719
Liu (1997) Genet Test 1:237
Hayward (1997) Hum Mutat 10:280
Hung (2009) Ann Hum Genet 73:559
Comeglio (2007) Hum Mutat 28:928
Stheneur (2009) Eur J Hum Genet 17:1121
Arbustini (2005) Hum Mutat 26:494
Hung (2009) Ann Hum Genet 73:559
Tjeldhorn (2006) Genet Test 10:258
Loeys (2001) Arch Intern Med 161:2447
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Matsukawa (2000) Hum Mutat 17:71
Hung (2009) Ann Hum Genet 73:559
Khau Van Kien (2010) Hum Mutat 31:E1021
Dietz (1992) Hum Mutat 1:366
Sakai (2006) Am J Med Genet A 140A:1719
Arbustini (2005) Hum Mutat 26:494
Liu (1997) Genet Test 1:237
PubMed 11933199
PubMed 16220557
PubMed 19293843
PubMed 10464652
PubMed 17657824
PubMed 17627385
PubMed 21542060
PubMed 21542060
PubMed 22005308
PubMed 19159394
PubMed 10189222
PubMed 16835936
PubMed 16476890
PubMed 24793577
PubMed 8136837
PubMed 16476890
PubMed 10874320
PubMed 19839986
PubMed 17657824
PubMed 18435798
PubMed 11175294
PubMed 10647894
PubMed 24793577
PubMed 19293843
PubMed 16222657
PubMed 14695540
PubMed 21907952
PubMed 16220557
PubMed 8136837
PubMed 11700157
PubMed 21883168
PubMed 8281141
PubMed 21907952
PubMed 21895641
PubMed 16835936
PubMed 10464652
PubMed 9338581
PubMed 19839986
PubMed 17657824
PubMed 19293843
PubMed 16222657
PubMed 19839986
PubMed 17253931
PubMed 11700157
PubMed 24793577
PubMed 24793577
PubMed 11139245
PubMed 19839986
PubMed 19802897
PubMed 1301946
PubMed 16835936
PubMed 16222657
PubMed 10464652
www.ngpd.it
Elenco mutazioni NGPD
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
CM992329
CM992328
CM127644
CM085431
CM085411
CM077276
CM117725
CM138475
CM098694
CM074843
CM983870
CM091212
CM055255
CM085401
CM145771
CM067401
CM020691
CM040041
TGT‐CGT
TGT‐TTT
TGT‐TCT
TGT‐TAT
TGT‐GGT
TGT‐TAT
TGC‐TGA
TGC‐TAC
TGC‐TAC
TGC‐TAC
TGT‐TAT
GCG‐CCG
TGG‐TGA
CAG‐TAG
CAA‐TAA
GAT‐CAT
GAG‐AAG
TGC‐TTC
Cys1672Arg
Cys1672Phe
Cys1672Ser
Cys1672Tyr
Cys1674Gly
Cys1674Tyr
Cys1687Term
Cys1695Tyr
Cys1719Tyr
Cys1720Tyr
Cys1721Tyr
Ala1728Pro
Trp1729Term
Gln1735Term
Gln1751Term
Asp1766His
Glu1769Lys
Cys1770Phe
5014T>C
5015G>T
5015G>C
5015G>A
5020T>G
5021G>A
5061C>A
5084G>A
5156G>A
5159G>A
5162G>A
5182G>C
5187G>A
5203C>T
5251C>T
5296G>C
5305G>A
5309G>T
C1672R
C1672F
C1672S
C1672Y
C1674G
C1674Y
C1687*
C1695Y
C1719Y
C1720Y
C1721Y
A1728P
W1729*
Q1735*
Q1751*
D1766H
E1769K
C1770F
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
CM045613
CM077260
CM100096
CM096455
CM098695
CM013932
CM054694
CM055244
CM077279
CM013933
CM077249
CM040042
CM074859
CM074823
CM062703
CM022004
CM022785
CM074812
CM093613
CM100621
CM1310986
CM980731
CM980732
CM098696
CM093614
CM100478
CM074808
CM983871
CM077256
CM1314086
CM990592
CM074864
CM993160
CM960638
TGC‐TAC
GAG‐TAG
GGA‐GAA
GTG‐GCG
TGT‐TAT
CGA‐CCA
CGA‐TGA
TGT‐CGT
TGT‐TTT
TGT‐TAT
TGT‐CGT
TGT‐TGG
TGT‐TAT
GGA‐GTA
AAG‐TAG
TGT‐TCT
TGT‐TAT
GAG‐AAG
TGT‐CGT
TGC‐GGC
TGC‐TGA
TGC‐TAC
GAA‐TAA
TGC‐TAC
AAC‐AGC
ACT‐CCT
AGC‐TGC
CGC‐TGC
TGT‐CGT
TGT‐GGT
TGT‐TCT
TGT‐TTT
TGT‐TAT
CCC‐TCC
Cys1770Tyr
Glu1772Term
Gly1780Glu
Val1781Ala
Cys1782Tyr
Arg1790Pro
Arg1790Term
Cys1791Arg
Cys1791Phe
Cys1791Tyr
Cys1793Arg
Cys1793Trp
Cys1793Tyr
Gly1796Val
Lys1802Term
Cys1806Ser
Cys1806Tyr
Glu1811Lys
Cys1812Arg
Cys1818Gly
Cys1818Term
Cys1818Tyr
Glu1823Term
Cys1824Tyr
Asn1826Ser
Thr1827Pro
Ser1830Cys
Arg1832Cys
Cys1833Arg
Cys1833Gly
Cys1833Ser
Cys1835Phe
Cys1835Tyr
Pro1837Ser
5309G>A
5314G>T
5339G>A
5342T>C
5345G>A
5369G>C
5368C>T
5371T>C
5372G>T
5372G>A
5377T>C
5379T>G
5378G>A
5387G>T
5404A>T
5417G>C
5417G>A
5431G>A
5434T>C
5452T>G
5454C>A
5453G>A
5467G>T
5471G>A
5477A>G
5479A>C
5488A>T
5494C>T
5497T>C
5497T>G
5498G>C
5504G>T
5504G>A
5509C>T
C1770Y
E1772*
G1780E
V1781A
C1782Y
R1790P
R1790*
C1791R
C1791F
C1791Y
C1793R
C1793W
C1793Y
G1796V
K1802*
C1806S
C1806Y
E1811K
C1812R
C1818G
C1818*
C1818Y
E1823*
C1824Y
N1826S
T1827P
S1830C
R1832C
C1833R
C1833G
C1833S
C1835F
C1835Y
P1837S
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Schrijver (1999) Am J Hum Genet 65:1007
Schrijver (1999) Am J Hum Genet 65:1007
Cui (2012) Orphanet J Rare Dis 7:
Attanasio (2008) Clin Genet 74:39
Attanasio (2008) Clin Genet 74:39
Howarth (2007) Genet Test 11:146
Baetens (2011) Hum Mutat 32:1053
Cecchi (2013) Am J Med Genet A 161:2305
Stheneur (2009) Eur J Hum Genet 17:1121
Comeglio (2007) Hum Mutat 28:928
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Rybczynski (2008) Am J Med Genet A 146A:3157
Rommel (2005) Hum Mutat 26:529
Attanasio (2008) Clin Genet 74:39
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Tjeldhorn (2006) Genet Test 10:258
Matyas (2002) Hum Mutat 19:443
Biggin (2004) Hum Mutat 23:99
Huang (2004) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21:562
Howarth (2007) Genet Test 11:146
Khau Van Kien (2010) Hum Mutat 31:E1021
Hung (2009) Ann Hum Genet 73:559
Stheneur (2009) Eur J Hum Genet 17:1121
Loeys (2001) Arch Intern Med 161:2447
Arbustini (2005) Hum Mutat 26:494
Rommel (2005) Hum Mutat 26:529
Howarth (2007) Genet Test 11:146
Loeys (2001) Arch Intern Med 161:2447
Howarth (2007) Genet Test 11:146
Biggin (2004) Hum Mutat 23:99
Comeglio (2007) Hum Mutat 28:928
Comeglio (2007) Hum Mutat 28:928
Sakai (2006) Am J Med Genet A 140A:1719
Robinson (2002) Hum Mutat 20:153
Rommel (2002) Hum Mutat 20:406
Comeglio (2007) Hum Mutat 28:928
Chung (2009) Am J Med Genet A 149A:1452
Yoo (2010) Clin Genet 77:177
Hayashi (2013) J Dermatol Sci 72:325
Perez (1998) Hum Mutat 13:84
Perez (1998) Hum Mutat 13:84
Stheneur (2009) Eur J Hum Genet 17:1121
Chung (2009) Am J Med Genet A 149A:1452
Yoo (2010) Clin Genet 77:177
Comeglio (2007) Hum Mutat 28:928
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Howarth (2007) Genet Test 11:146
Pees (2013) Clin Genet epub:epub
El‐Aleem (1999) Hum Mutat 14:181
Comeglio (2007) Hum Mutat 28:928
Halliday (1999) Hum Genet 105:587
Milewicz (1996) Circulation 94:2708
PubMed 10486319
PubMed 10486319
PubMed 22913777
PubMed 18435798
PubMed 18435798
PubMed 17627385
PubMed 21542060
PubMed 23897642
PubMed 19293843
PubMed 17657824
PubMed 9399842
PubMed 19012347
PubMed 16220557
PubMed 18435798
PubMed 24793577
PubMed 17253931
PubMed 11933199
PubMed 14695540
PubMed 15583982
PubMed 17627385
PubMed 19802897
PubMed 19839986
PubMed 19293843
PubMed 11700157
PubMed 16222657
PubMed 16220557
PubMed 17627385
PubMed 11700157
PubMed 17627385
PubMed 14695540
PubMed 17657824
PubMed 17657824
PubMed 16835936
PubMed 12203987
PubMed 12402346
PubMed 17657824
PubMed 19533785
PubMed 19863550
PubMed 23978319
PubMed 10189222
PubMed 10189222
PubMed 19293843
PubMed 19533785
PubMed 19863550
PubMed 17657824
PubMed 9399842
PubMed 17627385
PubMed 24199744
PubMed 10425041
PubMed 17657824
PubMed 10647894
PubMed 8941093
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM065177
CM062710
CM074849
CM098608
CM085406
CM098697
CM085423
CM130603
CM096456
CM054711
CM074829
CM098698
CM055241
CM098699
CM100479
CM108651
CM970516
CM085421
CM004135
CM098700
CM096457
CM098701
CM054717
CM127284
CM098702
CM145779
CM022786
CM098703
CM013934
CM980733
CM013935
CM098704
CM145781
CM022787
CM096458
CM118914
CM950448
CM055247
CM090179
CM055257
CM972813
CM127266
CM096459
CM085407
CM117726
CM042041
CM054691
CM145782
CM096460
CM067397
CM117999
CM013936
CM117727
GGC‐TGC
TGC‐CGC
TGC‐TGG
CAA‐TAA
TGC‐CGC
TGC‐TTC
TGC‐TAC
TGC‐CGC
ACA‐CCA
TGC‐TAC
GGT‐GAT
GGT‐TGT
ACC‐ATC
TGC‐TTC
TGC‐TCC
GAC‐CAC
AAT‐AAA
GAA‐AAA
TGT‐CGT
TGT‐TAT
TGT‐TTT
TGT‐TCT
TGT‐TAT
GGA‐AGA
TGC‐CGC
AAC‐AAG
ACA‐ATA
ATT‐AGT
ATT‐ACT
GGT‐GTT
CGC‐AGC
TGC‐AGC
TGC‐TAC
GGT‐GAT
GGT‐GTT
AAT‐GAT
TGT‐CGT
TGT‐GGT
TGT‐TCT
TGT‐TAT
GAT‐AAT
GAT‐GGT
GAA‐GTA
TGT‐GGT
TGT‐AGT
GGA‐TGA
CAA‐TAA
TGC‐TAC
TTC‐TGC
TGC‐CGC
TGC‐TAC
TGT‐TAT
GAA‐GGA
Gly1838Cys
Cys1847Arg
Cys1847Trp
Gln1854Term
Cys1860Arg
Cys1860Phe
Cys1860Tyr
Cys1865Arg
Thr1868Pro
Cys1876Tyr
Gly1879Asp
Gly1879Cys
Thr1887Ile
Cys1889Phe
Cys1889Ser
Asp1891His
Asn1893Lys
Glu1894Lys
Cys1895Arg
Cys1895Tyr
Cys1900Phe
Cys1900Ser
Cys1900Tyr
Gly1903Arg
Cys1905Arg
Asn1907Lys
Thr1908Ile
Ile1909Ser
Ile1909Thr
Gly1910Val
Arg1915Ser
Cys1916Ser
Cys1916Tyr
Gly1919Asp
Gly1919Val
Asn1926Asp
Cys1928Arg
Cys1928Gly
Cys1928Ser
Cys1928Tyr
Asp1930Asn
Asp1930Gly
Glu1933Val
Cys1934Gly
Cys1934Ser
Gly1937Term
Gln1946Term
Cys1947Tyr
Phe1954Cys
Cys1956Arg
Cys1958Tyr
Cys1971Tyr
Glu1976Gly
5512G>T
5539T>C
5541C>G
5560C>T
5578T>C
5579G>T
5579G>A
5593T>C
5602A>C
5627G>A
5636G>A
5635G>T
5660C>T
5666G>T
5666G>C
5671G>C
5679T>A
5680G>A
5683T>C
5684G>A
5699G>T
5699G>C
5699G>A
5707G>A
5713T>C
5721C>G
5723C>T
5726T>G
5726T>C
5729G>T
5743C>A
5746T>A
5747G>A
5756G>A
5756G>T
5776A>G
5782T>C
5782T>G
5783G>C
5783G>A
5788G>A
5789A>G
5798A>T
5800T>G
5800T>A
5809G>T
5836C>T
5840G>A
5861T>G
5866T>C
5873G>A
5912G>A
5927A>G
G1838C
C1847R
C1847W
Q1854*
C1860R
C1860F
C1860Y
C1865R
T1868P
C1876Y
G1879D
G1879C
T1887I
C1889F
C1889S
D1891H
N1893K
E1894K
C1895R
C1895Y
C1900F
C1900S
C1900Y
G1903R
C1905R
N1907K
T1908I
I1909S
I1909T
G1910V
R1915S
C1916S
C1916Y
G1919D
G1919V
N1926D
C1928R
C1928G
C1928S
C1928Y
D1930N
D1930G
E1933V
C1934G
C1934S
G1937*
Q1946*
C1947Y
F1954C
C1956R
C1958Y
C1971Y
E1976G
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Ganesh (2006) Arch Ophthalmol 124:205
Sakai (2006) Am J Med Genet A 140A:1719
Comeglio (2007) Hum Mutat 28:928
Stheneur (2009) Eur J Hum Genet 17:1121
Attanasio (2008) Clin Genet 74:39
Stheneur (2009) Eur J Hum Genet 17:1121
Attanasio (2008) Clin Genet 74:39
Wang (2013) J Mol Med (Berl) 91:37
Hung (2009) Ann Hum Genet 73:559
Arbustini (2005) Hum Mutat 26:494
Comeglio (2007) Hum Mutat 28:928
Stheneur (2009) Eur J Hum Genet 17:1121
Arbustini (2005) Hum Mutat 26:494
Stheneur (2009) Eur J Hum Genet 17:1121
Yoo (2010) Clin Genet 77:177
Hilhorst‐Hofstee (2010) Hum Mutat 31:E1915
Hayward (1997) Hum Mutat 10:280
Attanasio (2008) Clin Genet 74:39
Oh (2000) Pediatr Int 42:488
Stheneur (2009) Eur J Hum Genet 17:1121
Hung (2009) Ann Hum Genet 73:559
Stheneur (2009) Eur J Hum Genet 17:1121
Arbustini (2005) Hum Mutat 26:494
Robinson (2012) Clin Genet 82:223
Stheneur (2009) Eur J Hum Genet 17:1121
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Rommel (2002) Hum Mutat 20:406
Stheneur (2009) Eur J Hum Genet 17:1121
Loeys (2001) Arch Intern Med 161:2447
Perez (1998) Hum Mutat 13:84
Loeys (2001) Arch Intern Med 161:2447
Stheneur (2009) Eur J Hum Genet 17:1121
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Rommel (2002) Hum Mutat 20:406
Hung (2009) Ann Hum Genet 73:559
Lebreiro (2011) Rev Port Cardiol 30:649
Nijbroek (1995) Am J Hum Genet 57:8
Rommel (2005) Hum Mutat 26:529
Van Dijk (2009) Eur J Med Genet 52:1
Rommel (2005) Hum Mutat 26:529
Liu (1997) Genet Test 1:237
Sheikhzadeh (2012) Clin Genet 82:240
Hung (2009) Ann Hum Genet 73:559
Attanasio (2008) Clin Genet 74:39
Baetens (2011) Hum Mutat 32:1053
Loeys (2004) Hum Mutat 24:140
Arbustini (2005) Hum Mutat 26:494
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Hung (2009) Ann Hum Genet 73:559
Tjeldhorn (2006) Genet Test 10:258
Ogawa (2011) Am J Cardiol 108:1801
Loeys (2001) Arch Intern Med 161:2447
Baetens (2011) Hum Mutat 32:1053
PubMed 16476890
PubMed 16835936
PubMed 17657824
PubMed 19293843
PubMed 18435798
PubMed 19293843
PubMed 18435798
PubMed 22772377
PubMed 19839986
PubMed 16222657
PubMed 17657824
PubMed 19293843
PubMed 16222657
PubMed 19293843
PubMed 19863550
PubMed 20886638
PubMed 9338581
PubMed 18435798
PubMed 11059536
PubMed 19293843
PubMed 19839986
PubMed 19293843
PubMed 16222657
PubMed 21895641
PubMed 19293843
PubMed 24793577
PubMed 12402346
PubMed 19293843
PubMed 11700157
PubMed 10189222
PubMed 11700157
PubMed 19293843
PubMed 24793577
PubMed 12402346
PubMed 19839986
PubMed 22005308
PubMed 7611299
PubMed 16220557
PubMed 19059503
PubMed 16220557
PubMed 10464652
PubMed 21883168
PubMed 19839986
PubMed 18435798
PubMed 21542060
PubMed 15241795
PubMed 16222657
PubMed 24793577
PubMed 19839986
PubMed 17253931
PubMed 21907952
PubMed 11700157
PubMed 21542060
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM077264
CM021596
CM085432
CM983872
CM117728
CM012600
CM098705
CM022005
CM077270
CM127285
CM108652
CM098706
CM972814
CM127268
CM972815
CM098627
CM098707
CM055258
CM972816
CM145784
CM992330
CM074852
CM003139
CM013937
CM972817
CM972818
CM098708
CM092467
CM085420
CM085412
CM062713
CM100466
CM098709
CM127286
CM093615
CM085424
CM055246
CM118000
CM970517
CM098710
CM098711
CM020692
CM098618
CM020136
CM970518
CM983873
CM950449
CM074799
CM940768
CM003140
CM106074
CM067392
CM100097
GAA‐AAA
TGT‐CGT
TGT‐TGG
TGT‐TAT
TGT‐CGT
GGT‐CGT
GGT‐GTT
TGC‐TAC
TGC‐TCC
TGT‐GGT
GAT‐TAT
GAG‐AAG
TGT‐CGT
GAA‐AAA
ATT‐ACT
TGC‐TGA
TGT‐TTT
TGT‐TAT
CTG‐GTG
TGT‐TAT
TGC‐TTC
TGC‐TGA
CAA‐CCA
CAA‐TAA
CGA‐CAA
CGA‐TGA
TGT‐CGT
TGT‐TTT
TAT‐TAA
AAG‐TAG
TCC‐TGC
CAG‐TAG
TGC‐TTC
TGC‐TCC
TGC‐TGG
TGC‐TAC
TGT‐CGT
TGC‐TTC
TGC‐TGG
TGC‐TAC
CCC‐TCC
ACG‐AAG
CAG‐TAG
TGT‐CGT
TGT‐TAT
TAT‐TAA
TAT‐TAG
ATC‐ATG
GAT‐GAA
GAT‐TAT
GAT‐GTT
GAA‐AAA
GGA‐AGA
Glu1976Lys
Cys1977Arg
Cys1977Trp
Cys1977Tyr
Cys1984Arg
Gly1987Arg
Gly1987Val
Cys1998Tyr
Cys2000Ser
Cys2011Gly
Asp2013Tyr
Glu2016Lys
Cys2017Arg
Glu2019Lys
Ile2023Thr
Cys2029Term
Cys2038Phe
Cys2038Tyr
Leu2039Val
Cys2040Tyr
Cys2053Phe
Cys2053Term
Gln2054Pro
Gln2054Term
Arg2057Gln
Arg2057Term
Cys2061Arg
Cys2061Phe
Tyr2062Term
Lys2064Term
Ser2079Cys
Gln2081Term
Cys2083Phe
Cys2084Ser
Cys2084Trp
Cys2084Tyr
Cys2085Arg
Cys2099Phe
Cys2099Trp
Cys2099Tyr
Pro2100Ser
Thr2101Lys
Gln2109Term
Cys2111Arg
Cys2111Tyr
Tyr2113Term
Tyr2113Term
Ile2118Met
Asp2127Glu
Asp2127Tyr
Asp2127Val
Glu2130Lys
Gly2140Arg
5926G>A
5929T>C
5931T>G
5930G>A
5950T>C
5959G>C
5960G>T
5993G>A
5999G>C
6031T>G
6037G>T
6046G>A
6049T>C
6055G>A
6068T>C
6087C>A
6113G>T
6113G>A
6115C>G
6119G>A
6158G>T
6159C>A
6161A>C
6160C>T
6170G>A
6169C>T
6181T>C
6182G>T
6186T>A
6190A>T
6236C>G
6241C>T
6248G>T
6251G>C
6252C>G
6251G>A
6253T>C
6296G>T
6297C>G
6296G>A
6298C>T
6302C>A
6325C>T
6331T>C
6332G>A
6339T>A
6339T>G
6354C>G
6381T>A
6379G>T
6380A>T
6388G>A
6418G>A
E1976K
C1977R
C1977W
C1977Y
C1984R
G1987R
G1987V
C1998Y
C2000S
C2011G
D2013Y
E2016K
C2017R
E2019K
I2023T
C2029*
C2038F
C2038Y
L2039V
C2040Y
C2053F
C2053*
Q2054P
Q2054*
R2057Q
R2057*
C2061R
C2061F
Y2062*
K2064*
S2079C
Q2081*
C2083F
C2084S
C2084W
C2084Y
C2085R
C2099F
C2099W
C2099Y
P2100S
T2101K
Q2109*
C2111R
C2111Y
Y2113*
Y2113*
I2118M
D2127E
D2127Y
D2127V
E2130K
G2140R
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Howarth (2007) Genet Test 11:146
Halliday (2002) J Med Genet 39:589
Attanasio (2008) Clin Genet 74:39
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Baetens (2011) Hum Mutat 32:1053
Comeglio (2001) Hum Mutat 18:251
Stheneur (2009) Eur J Hum Genet 17:1121
Robinson (2002) Hum Mutat 20:153
Howarth (2007) Genet Test 11:146
Robinson (2012) Clin Genet 82:223
Hilhorst‐Hofstee (2010) Hum Mutat 31:E1915
Stheneur (2009) Eur J Hum Genet 17:1121
Liu (1997) Genet Test 1:237
Sheikhzadeh (2012) Clin Genet 82:240
Liu (1997) Genet Test 1:237
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Rommel (2005) Hum Mutat 26:529
Liu (1997) Genet Test 1:237
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Schrijver (1999) Am J Hum Genet 65:1007
Comeglio (2007) Hum Mutat 28:928
Matsukawa (2000) Hum Mutat 17:71
Loeys (2001) Arch Intern Med 161:2447
Liu (1997) Genet Test 1:237
Liu (1997) Genet Test 1:237
Stheneur (2009) Eur J Hum Genet 17:1121
Zhao (2009) Mol Vis 15:826
Attanasio (2008) Clin Genet 74:39
Attanasio (2008) Clin Genet 74:39
Sakai (2006) Am J Med Genet A 140A:1719
Yoo (2010) Clin Genet 77:177
Stheneur (2009) Eur J Hum Genet 17:1121
Robinson (2012) Clin Genet 82:223
Chung (2009) Am J Med Genet A 149A:1452
Attanasio (2008) Clin Genet 74:39
Rommel (2005) Hum Mutat 26:529
Ogawa (2011) Am J Cardiol 108:1801
Hayward (1997) Hum Mutat 10:280
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Matyas (2002) Hum Mutat 19:443
Stheneur (2009) Eur J Hum Genet 17:1121
Korkko (2002) J Med Genet 39:34
Hayward (1997) Hum Mutat 10:280
Collod‐Beroud (1998) Nucleic Acids Res 26:229
Dietz (1993) Science 259:680
Comeglio (2007) Hum Mutat 28:928
Kainulainen (1994) Nat Genet 6:64
Matsukawa (2000) Hum Mutat 17:71
Evangelisti (2010) Eur J Med Genet 53:299
Tjeldhorn (2006) Genet Test 10:258
Khau Van Kien (2010) Hum Mutat 31:E1021
PubMed 17627385
PubMed 12161601
PubMed 18435798
PubMed 9399842
PubMed 21542060
PubMed 11524736
PubMed 19293843
PubMed 12203987
PubMed 17627385
PubMed 21895641
PubMed 20886638
PubMed 19293843
PubMed 10464652
PubMed 21883168
PubMed 10464652
PubMed 19293843
PubMed 19293843
PubMed 16220557
PubMed 10464652
PubMed 24793577
PubMed 10486319
PubMed 17657824
PubMed 11139245
PubMed 11700157
PubMed 10464652
PubMed 10464652
PubMed 19293843
PubMed 19390640
PubMed 18435798
PubMed 18435798
PubMed 16835936
PubMed 19863550
PubMed 19293843
PubMed 21895641
PubMed 19533785
PubMed 18435798
PubMed 16220557
PubMed 21907952
PubMed 9338581
PubMed 19293843
PubMed 19293843
PubMed 11933199
PubMed 19293843
PubMed 11826022
PubMed 9338581
PubMed 9399842
PubMed 8430317
PubMed 17657824
PubMed 8136837
PubMed 11139245
PubMed 20538085
PubMed 17253931
PubMed 19802897
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM100098
CM990593
CM1312104
CM074805
CM930247
CM074833
CM145787
CM098712
CM940769
CM012601
CM054687
CM117730
CM077259
CM025496
CM067390
BM1157862
HM080072
CM040043
CM116657
CM013939
CM145790
CM003141
CM992331
CM022006
CM054722
CM920269
CM013940
CM127287
CM972858
CM1314087
CM067394
CM098714
CM067387
CM100480
CM022788
CM995303
CM970519
CM993161
CM950450
CM098715
CM056959
CM098716
CM077261
CM074850
CM094366
CM145793
CM970520
CM085402
CM098718
CM106075
CM042042
CM094365
CM020693
GGA‐GAA
TGC‐TAC
ATC‐AAC
AAT‐GAT
AAT‐AGT
ACA‐CCA
TAT‐TGT
TGC‐CGC
TGC‐TGG
TGT‐TAT
GCA‐CCA
GAT‐AAT
GAT‐GGT
TGT‐TTT
TGT‐AGT
GGC‐AGC
GAA‐TAA
GAG‐TAG
GAG‐TAG
GGA‐TGA
TTC‐TCC
CGA‐TGA
TGT‐CGT
TGT‐GGT
TGT‐TTT
TGT‐TCT
AAC‐CAC
TGT‐CGT
TGT‐TAT
CCC‐CGC
GTG‐ATG
GAT‐GGT
GAT‐TAT
GAT‐GTT
TGT‐CGT
TGT‐AGT
TGT‐CGT
TGT‐TAT
CAA‐TAA
TGC‐TTC
TGC‐TAC
AAC‐ATC
GGC‐GAC
TGC‐TGG
TGT‐TAT
CAG‐TAG
CGG‐TGG
CCT‐ACT
TGT‐TAT
GAT‐AAT
GAA‐GCA
TGT‐CGT
TGT‐TAT
Gly2140Glu
Cys2142Tyr
Ile2143Asn
Asn2144Asp
Asn2144Ser
Thr2145Pro
Tyr2149Cys
Cys2151Arg
Cys2151Trp
Cys2153Tyr
Ala2160Pro
Asp2166Asn
Asp2168Gly
Cys2170Phe
Cys2170Ser
Gly2173Ser
Glu2189Term
Glu2193Term
Glu2194Term
Gly2195Term
Phe2219Ser
Arg2220Term
Cys2221Arg
Cys2221Gly
Cys2221Phe
Cys2221Ser
Asn2223His
Cys2232Arg
Cys2232Tyr
Pro2233Arg
Val2234Met
Asp2247Gly
Asp2247Tyr
Asp2247Val
Cys2251Arg
Cys2251Ser
Cys2258Arg
Cys2258Tyr
Gln2262Term
Cys2265Phe
Cys2265Tyr
Asn2267Ile
Gly2270Asp
Cys2274Trp
Cys2276Tyr
Gln2281Term
Arg2282Trp
Pro2284Thr
Cys2289Tyr
Asp2291Asn
Glu2294Ala
Cys2295Arg
Cys2295Tyr
6419G>A
6425G>A
6428T>A
6430A>G
6431A>G
6433A>C
6446A>G
6451T>C
6453C>G
6458G>A
6478G>C
6496G>A
6503A>G
6509G>T
6508T>A
6517G>A
6565G>T
6577G>T
6580G>T
6583G>T
6656T>C
6658C>T
6661T>C
6661T>G
6662G>T
6662G>C
6667A>C
6694T>C
6695G>A
6698C>G
6700G>A
6740A>G
6739G>T
6740A>T
6751T>C
6751T>A
6772T>C
6773G>A
6784C>T
6794G>T
6794G>A
6800A>T
6809G>A
6822C>G
6827G>A
6841C>T
6844C>T
6850C>A
6866G>A
6871G>A
6881A>C
6883T>C
6884G>A
G2140E
C2142Y
I2143N
N2144D
N2144S
T2145P
Y2149C
C2151R
C2151W
C2153Y
A2160P
D2166N
D2168G
C2170F
C2170S
G2173S
E2189*
E2193*
E2194*
G2195*
F2219S
R2220*
C2221R
C2221G
C2221F
C2221S
N2223H
C2232R
C2232Y
P2233R
V2234M
D2247G
D2247Y
D2247V
C2251R
C2251S
C2258R
C2258Y
Q2262*
C2265F
C2265Y
N2267I
G2270D
C2274W
C2276Y
Q2281*
R2282W
P2284T
C2289Y
D2291N
E2294A
C2295R
C2295Y
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Khau Van Kien (2010) Hum Mutat 31:E1021
El‐Aleem (1999) Hum Mutat 14:181
Aalberts (2014) Gene 534:40
Comeglio (2007) Hum Mutat 28:928
Hewett (1993) Hum Mol Genet 2:475
Comeglio (2007) Hum Mutat 28:928
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Stheneur (2009) Eur J Hum Genet 17:1121
Kainulainen (1994) Nat Genet 6:64
Comeglio (2001) Hum Mutat 18:251
Arbustini (2005) Hum Mutat 26:494
Baetens (2011) Hum Mutat 32:1053
Howarth (2007) Genet Test 11:146
Ng (2002) Genome Res 12:436
Tjeldhorn (2006) Genet Test 10:258
Ogawa (2011) Am J Cardiol 108:1801
Ellison (2009) Hum Genet 125:338
Biggin (2004) Hum Mutat 23:99
Díaz de Bustamante (2011) Rev Esp Cardiol epub:epub
Loeys (2001) Arch Intern Med 161:2447
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Matsukawa (2000) Hum Mutat 17:71
Schrijver (1999) Am J Hum Genet 65:1007
Katzke (2002) Hum Mutat 20:197
Arbustini (2005) Hum Mutat 26:494
Dietz (1992) Hum Mutat 1:366
Loeys (2001) Arch Intern Med 161:2447
Robinson (2012) Clin Genet 82:223
Pepe (1997) J Mol Cell Cardiol 29:1877
Pees (2013) Clin Genet epub:epub
Tjeldhorn (2006) Genet Test 10:258
Stheneur (2009) Eur J Hum Genet 17:1121
Tjeldhorn (2006) Genet Test 10:258
Yoo (2010) Clin Genet 77:177
Rommel (2002) Hum Mutat 20:406
Yuan (1999) Hum Mutat 14:440
Hayward (1997) Hum Mutat 10:280
Halliday (1999) Hum Genet 105:587
Nijbroek (1995) Am J Hum Genet 57:8
Stheneur (2009) Eur J Hum Genet 17:1121
Baumgartner (2005) Methods Inf Med 44:487
Stheneur (2009) Eur J Hum Genet 17:1121
Howarth (2007) Genet Test 11:146
Comeglio (2007) Hum Mutat 28:928
Voermans (2009) Clin Genet 76:25
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Hayward (1997) Hum Mutat 10:280
Attanasio (2008) Clin Genet 74:39
Stheneur (2009) Eur J Hum Genet 17:1121
Evangelisti (2010) Eur J Med Genet 53:299
Loeys (2004) Hum Mutat 24:140
Voermans (2009) Clin Genet 76:25
Matyas (2002) Hum Mutat 19:443
PubMed 19802897
PubMed 10425041
PubMed 24161884
PubMed 17657824
PubMed 8504310
PubMed 17657824
PubMed 24793577
PubMed 19293843
PubMed 8136837
PubMed 11524736
PubMed 16222657
PubMed 21542060
PubMed 17627385
PubMed 11875032
PubMed 17253931
PubMed 21907952
Source: Online submission
PubMed 14695540
PubMed 21840105
PubMed 11700157
PubMed 24793577
PubMed 11139245
PubMed 10486319
PubMed 12203992
PubMed 16222657
PubMed 1301946
PubMed 11700157
PubMed 21895641
PubMed 9236141
PubMed 24199744
PubMed 17253931
PubMed 19293843
PubMed 17253931
PubMed 19863550
PubMed 12402346
PubMed 10533071
PubMed 9338581
PubMed 10647894
PubMed 7611299
PubMed 19293843
PubMed 16342915
PubMed 19293843
PubMed 17627385
PubMed 17657824
PubMed 19659760
PubMed 24793577
PubMed 9338581
PubMed 18435798
PubMed 19293843
PubMed 20538085
PubMed 15241795
PubMed 19659760
PubMed 11933199
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM145794
CM093616
CM118909
CM098719
CM950451
CM145795
CM098720
CM117731
CM098721
CM091213
CM145796
CM022007
CM088216
CM118001
CM022008
CM067405
CM096463
CM117735
CM098619
CM055249
CM074168
CM993162
CM013941
CM098722
CM062706
CM020137
CM098609
CM098723
CM098724
CM117732
CM098628
CM040044
CM108653
CM940770
CM054696
CM062711
CM091214
CM077268
CM077246
CM098725
CM021597
CM021598
CM062716
CM085425
CM098610
CM014707
CM970521
CM020373
CM067406
CM1312101
CM096464
CM054689
CM025899
CAG‐TAG
AAG‐TAG
TGT‐TGA
TGC‐CGC
TGC‐TCC
TGC‐TAC
TGT‐CGT
TGT‐CGT
TGT‐TAT
TGC‐TGA
TGC‐TAC
CGG‐TGG
TGC‐CGC
TGC‐GGC
TGC‐TAC
TGT‐TAT
TGG‐CGG
TGG‐TAG
CAG‐TAG
GCT‐ACT
TGT‐AGT
CGA‐TGA
TGC‐TAC
TGC‐CGC
CGA‐CAA
CGA‐TGA
TAT‐TAA
TGT‐CGT
TGT‐GGT
TGT‐AGT
TGT‐TGA
TGT‐TGG
GAT‐GGT
GAG‐AAG
GAG‐TAG
TGC‐CGC
TGC‐TCC
TGC‐TAC
AAA‐AGA
AAC‐ACC
TAC‐TAA
CAG‐TAG
TGC‐TGA
TGC‐TAC
CAA‐TAA
TGC‐TAC
TGT‐CGT
TGT‐GGT
TGT‐TAT
TGC‐CGC
TGC‐TAC
TGT‐CGT
TGT‐AGT
Gln2296Term
Lys2298Term
Cys2302Term
Cys2307Arg
Cys2307Ser
Cys2307Tyr
Cys2316Arg
Cys2318Arg
Cys2318Tyr
Cys2331Term
Cys2331Tyr
Arg2335Trp
Cys2339Arg
Cys2339Gly
Cys2339Tyr
Cys2365Tyr
Trp2371Arg
Trp2371Term
Gln2381Term
Ala2385Thr
Cys2390Ser
Arg2394Term
Cys2406Tyr
Cys2413Arg
Arg2414Gln
Arg2414Term
Tyr2425Term
Cys2429Arg
Cys2442Gly
Cys2442Ser
Cys2442Term
Cys2442Trp
Asp2444Gly
Glu2447Lys
Glu2447Term
Cys2448Arg
Cys2455Ser
Cys2455Tyr
Lys2460Arg
Asn2461Thr
Tyr2466Term
Gln2467Term
Cys2470Term
Cys2470Tyr
Gln2477Term
Cys2483Tyr
Cys2489Arg
Cys2489Gly
Cys2489Tyr
Cys2496Arg
Cys2496Tyr
Cys2500Arg
Cys2500Ser
6886C>T
6892A>T
6906T>A
6919T>C
6920G>C
6920G>A
6946T>C
6952T>C
6953G>A
6993C>A
6992G>A
7003C>T
7015T>C
7015T>G
7016G>A
7094G>A
7111T>C
7112G>A
7141C>T
7153G>A
7168T>A
7180C>T
7217G>A
7237T>C
7241G>A
7240C>T
7275T>A
7285T>C
7324T>G
7324T>A
7326T>A
7326T>G
7331A>G
7339G>A
7339G>T
7342T>C
7364G>C
7364G>A
7379A>G
7382A>C
7398C>A
7399C>T
7410C>A
7409G>A
7429C>T
7448G>A
7465T>C
7465T>G
7466G>A
7486T>C
7487G>A
7498T>C
7498T>A
Q2296*
K2298*
C2302*
C2307R
C2307S
C2307Y
C2316R
C2318R
C2318Y
C2331*
C2331Y
R2335W
C2339R
C2339G
C2339Y
C2365Y
W2371R
W2371*
Q2381*
A2385T
C2390S
R2394*
C2406Y
C2413R
R2414Q
R2414*
Y2425*
C2429R
C2442G
C2442S
C2442*
C2442W
D2444G
E2447K
E2447*
C2448R
C2455S
C2455Y
K2460R
N2461T
Y2466*
Q2467*
C2470*
C2470Y
Q2477*
C2483Y
C2489R
C2489G
C2489Y
C2496R
C2496Y
C2500R
C2500S
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Chung (2009) Am J Med Genet A 149A:1452
Lebreiro (2011) Rev Port Cardiol 30:649
Stheneur (2009) Eur J Hum Genet 17:1121
Dietz (1995) Hum Mol Genet 4:1799
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Stheneur (2009) Eur J Hum Genet 17:1121
Baetens (2011) Hum Mutat 32:1053
Stheneur (2009) Eur J Hum Genet 17:1121
Rybczynski (2008) Am J Med Genet A 146A:3157
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Robinson (2002) Hum Mutat 20:153
Rybczynski (2008) Am J Med Genet A 146A:3157
Ogawa (2011) Am J Cardiol 108:1801
Robinson (2002) Hum Mutat 20:153
Tjeldhorn (2006) Genet Test 10:258
Hung (2009) Ann Hum Genet 73:559
Baetens (2011) Hum Mutat 32:1053
Stheneur (2009) Eur J Hum Genet 17:1121
Arbustini (2005) Hum Mutat 26:494
143A:1968
Halliday (1999) Hum Genet 105:587
Loeys (2001) Arch Intern Med 161:2447
Stheneur (2009) Eur J Hum Genet 17:1121
Sakai (2006) Am J Med Genet A 140A:1719
Korkko (2002) J Med Genet 39:34
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Baetens (2011) Hum Mutat 32:1053
Stheneur (2009) Eur J Hum Genet 17:1121
Biggin (2004) Hum Mutat 23:99
Hilhorst‐Hofstee (2010) Hum Mutat 31:E1915
Kainulainen (1994) Nat Genet 6:64
Arbustini (2005) Hum Mutat 26:494
Sakai (2006) Am J Med Genet A 140A:1719
Söylen (2009) Clin Genet 75:265
Howarth (2007) Genet Test 11:146
Howarth (2007) Genet Test 11:146
Stheneur (2009) Eur J Hum Genet 17:1121
Halliday (2002) J Med Genet 39:589
Halliday (2002) J Med Genet 39:589
Sakai (2006) Am J Med Genet A 140A:1719
Attanasio (2008) Clin Genet 74:39
Stheneur (2009) Eur J Hum Genet 17:1121
Judge (2001) Am J Med Genet 99:39
Hayward (1997) Hum Mutat 10:280
Loeys (2002) Prenat Diagn 22:22
Valiev (2006) Mol Biol (Mosk) 40:1021
Aalberts (2014) Gene 534:40
Hung (2009) Ann Hum Genet 73:559
Arbustini (2005) Hum Mutat 26:494
Ng (2002) Genome Res 12:436
PubMed 24793577
PubMed 19533785
PubMed 22005308
PubMed 19293843
PubMed 8541880
PubMed 24793577
PubMed 19293843
PubMed 21542060
PubMed 19293843
PubMed 19012347
PubMed 24793577
PubMed 12203987
PubMed 19012347
PubMed 21907952
PubMed 12203987
PubMed 17253931
PubMed 19839986
PubMed 21542060
PubMed 19293843
PubMed 16222657
PubMed 17663468
PubMed 10647894
PubMed 11700157
PubMed 19293843
PubMed 16835936
PubMed 11826022
PubMed 19293843
PubMed 19293843
PubMed 19293843
PubMed 21542060
PubMed 19293843
PubMed 14695540
PubMed 20886638
PubMed 8136837
PubMed 16222657
PubMed 16835936
PubMed 19159394
PubMed 17627385
PubMed 17627385
PubMed 19293843
PubMed 12161601
PubMed 12161601
PubMed 16835936
PubMed 18435798
PubMed 19293843
PubMed 11170092
PubMed 9338581
PubMed 11810645
PubMed 17209430
PubMed 24161884
PubMed 19839986
PubMed 16222657
PubMed 11875032
www.ngpd.it
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
Elenco mutazioni NGPD
CM054718
CM098726
CM940771
CM995304
CM025900
CM077253
CM074795
CM000514
CM093617
CM000515
CM054714
CM012602
CM074809
CM127288
CM1314088
CM127886
CM127269
CM074824
CM077263
CM085413
CM077254
CM054695
CM054703
CM074867
CM138995
CM972859
CM074844
CM013942
CM022009
CM077269
CM972820
CM098727
CM098728
CM054697
CM098729
CM095638
CM056955
CM098629
CM091215
CM055259
CM108654
CM972821
CM972822
CM077250
CM098730
CM020694
CM1314089
CM042043
CM970522
CM015153
CM000516
CM098731
CM950452
TGT‐TAT
TGC‐TAC
TGT‐CGT
TGT‐TAT
GGA‐AGA
GGA‐TGA
ACG‐ATG
TGC‐TCC
TGC‐TAC
TGC‐TGA
TGC‐TGG
GGG‐AGG
CAG‐TAG
CCT‐TCT
TGT‐TAT
CAG‐TAG
CGG‐CAG
GGA‐GTA
TCA‐TAA
ACC‐CCC
GTG‐ATG
GAG‐AAG
TGT‐CGT
TGT‐TGA
CGC‐TGC
TGC‐CGC
TGC‐TAC
TGC‐TTC
TGC‐TGG
TGC‐TAC
ATT‐ACT
GGG‐TGG
TGC‐TAC
TGC‐AGC
GGC‐AGC
TAC‐TAA
CAG‐TAG
TGG‐TGA
TGT‐TGA
TGT‐TAT
GAT‐AAT
GAT‐GGT
GAA‐AAA
ATC‐GTC
TGC‐TGG
GGA‐AGA
TCC‐GCC
TGT‐AGT
CAC‐CCC
AAC‐AAG
AAC‐AGC
AAC‐ACC
GGG‐AGG
Cys2500Tyr
Cys2509Tyr
Cys2511Arg
Cys2511Tyr
Gly2514Arg
Gly2514Term
Thr2520Met
Cys2522Ser
Cys2522Tyr
Cys2535Term
Cys2535Trp
Gly2536Arg
Gln2542Term
Pro2545Ser
Cys2550Tyr
Gln2553Term
Arg2554Gln
Gly2555Val
Ser2557Term
Thr2561Pro
Val2568Met
Glu2570Lys
Cys2571Arg
Cys2571Term
Arg2576Cys
Cys2577Arg
Cys2577Tyr
Cys2581Phe
Cys2581Trp
Cys2581Tyr
Ile2585Thr
Gly2586Trp
Cys2590Tyr
Cys2592Ser
Gly2595Ser
Tyr2600Term
Gln2601Term
Trp2602Term
Cys2605Term
Cys2605Tyr
Asp2607Asn
Asp2607Gly
Glu2610Lys
Ile2616Val
Cys2617Trp
Gly2618Arg
Ser2621Ala
Cys2622Ser
His2623Pro
Asn2624Lys
Asn2624Ser
Asn2624Thr
Gly2627Arg
7499G>A
7526G>A
7531T>C
7532G>A
7540G>A
7540G>T
7559C>T
7565G>C
7565G>A
7605C>A
7605C>G
7606G>A
7624C>T
7633C>T
7649G>A
7657C>T
7661G>A
7664G>T
7670C>A
7681A>C
7702G>A
7708G>A
7711T>C
7713T>A
7726C>T
7729T>C
7730G>A
7742G>T
7743C>G
7742G>A
7754T>C
7756G>T
7769G>A
7774T>A
7783G>A
7800C>A
7801C>T
7806G>A
7815T>A
7814G>A
7819G>A
7820A>G
7828G>A
7846A>G
7851C>G
7852G>A
7861T>G
7864T>A
7868A>C
7872C>G
7871A>G
7871A>C
7879G>A
C2500Y
C2509Y
C2511R
C2511Y
G2514R
G2514*
T2520M
C2522S
C2522Y
C2535*
C2535W
G2536R
Q2542*
P2545S
C2550Y
Q2553*
R2554Q
G2555V
S2557*
T2561P
V2568M
E2570K
C2571R
C2571*
R2576C
C2577R
C2577Y
C2581F
C2581W
C2581Y
I2585T
G2586W
C2590Y
C2592S
G2595S
Y2600*
Q2601*
W2602*
C2605*
C2605Y
D2607N
D2607G
E2610K
I2616V
C2617W
G2618R
S2621A
C2622S
H2623P
N2624K
N2624S
N2624T
G2627R
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Arbustini (2005) Hum Mutat 26:494
Stheneur (2009) Eur J Hum Genet 17:1121
Kainulainen (1994) Nat Genet 6:64
Yuan (1999) Hum Mutat 14:440
Ng (2002) Genome Res 12:436
Howarth (2007) Genet Test 11:146
Comeglio (2007) Hum Mutat 28:928
Palz (2000) Am J Med Genet 91:212
Chung (2009) Am J Med Genet A 149A:1452
Palz (2000) Am J Med Genet 91:212
Arbustini (2005) Hum Mutat 26:494
Comeglio (2001) Hum Mutat 18:251
Comeglio (2007) Hum Mutat 28:928
Robinson (2012) Clin Genet 82:223
Pees (2013) Clin Genet epub:epub
Song (2012) J Genet 91:233
Sheikhzadeh (2012) Clin Genet 82:240
Comeglio (2007) Hum Mutat 28:928
Howarth (2007) Genet Test 11:146
Attanasio (2008) Clin Genet 74:39
Howarth (2007) Genet Test 11:146
Arbustini (2005) Hum Mutat 26:494
Arbustini (2005) Hum Mutat 26:494
Comeglio (2007) Hum Mutat 28:928
Hogue (2013) Clin Genet 84:392
Pepe (1997) J Mol Cell Cardiol 29:1877
Comeglio (2007) Hum Mutat 28:928
Loeys (2001) Arch Intern Med 161:2447
Korkko (2002) J Med Genet 39:34
Howarth (2007) Genet Test 11:146
Liu (1997) Genet Test 1:237
Stheneur (2009) Eur J Hum Genet 17:1121
Stheneur (2009) Eur J Hum Genet 17:1121
Arbustini (2005) Hum Mutat 26:494
Stheneur (2009) Eur J Hum Genet 17:1121
Magyar (2009) Hum Mutat 30:1355
Baumgartner (2005) Methods Inf Med 44:487
Stheneur (2009) Eur J Hum Genet 17:1121
Söylen (2009) Clin Genet 75:265
Rommel (2005) Hum Mutat 26:529
Hilhorst‐Hofstee (2010) Hum Mutat 31:E1915
Liu (1997) Genet Test 1:237
Liu (1997) Genet Test 1:237
Howarth (2007) Genet Test 11:146
Stheneur (2009) Eur J Hum Genet 17:1121
Matyas (2002) Hum Mutat 19:443
Pees (2013) Clin Genet epub:epub
Loeys (2004) Hum Mutat 24:140
Collod‐Beroud (1997) Nucleic Acids Res 25:147
Loeys (2001) Arch Intern Med 161:2447
Palz (2000) Am J Med Genet 91:212
Stheneur (2009) Eur J Hum Genet 17:1121
Dietz (1995) Hum Mol Genet 4:1799
PubMed 16222657
PubMed 19293843
PubMed 8136837
PubMed 10533071
PubMed 11875032
PubMed 17627385
PubMed 17657824
PubMed 10756346
PubMed 19533785
PubMed 10756346
PubMed 16222657
PubMed 11524736
PubMed 17657824
PubMed 21895641
PubMed 24199744
PubMed 22942097
PubMed 21883168
PubMed 17657824
PubMed 17627385
PubMed 18435798
PubMed 17627385
PubMed 16222657
PubMed 16222657
PubMed 17657824
PubMed 23278365
PubMed 9236141
PubMed 17657824
PubMed 11700157
PubMed 11826022
PubMed 17627385
PubMed 10464652
PubMed 19293843
PubMed 19293843
PubMed 16222657
PubMed 19293843
PubMed 19618372
PubMed 16342915
PubMed 19293843
PubMed 19159394
PubMed 16220557
PubMed 20886638
PubMed 10464652
PubMed 10464652
PubMed 17627385
PubMed 19293843
PubMed 11933199
PubMed 24199744
PubMed 15241795
PubMed 9016526
PubMed 11700157
PubMed 10756346
PubMed 19293843
PubMed 8541880
www.ngpd.it
Elenco mutazioni NGPD
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
FBN1
CM054706
CM145808
CM141673
CM020695
CM020696
CM117733
CM020139
CM077277
CM098620
CM095639
CM062704
CM043997
CM020697
CM013943
CM098733
CM930248
CM077257
CM972823
CM145809
CM096465
CM040045
CM093618
CM1314090
CM013944
CM950453
CM145811
CM077252
CM145812
CM920270
CM085408
CM940772
CM021599
CM067399
CM117734
CM054707
CM067391
CM145813
CM096466
CM118006
CM107867
CM098621
TAC‐TGC
TGC‐TAC
TGT‐CGT
TAT‐AAT
TAT‐TGT
TGC‐CGC
TGT‐GGT
TGT‐TAT
CAG‐TAG
TGC‐TGA
AGC‐CGC
TGT‐TCT
GGC‐GAC
GGC‐TGC
GGT‐GTT
CGC‐TGC
TGT‐CGT
TGT‐TTT
GGC‐AGC
CGA‐CAA
CGA‐TGA
AAT‐AGT
TCA‐TGA
GAG‐TAG
CGG‐TGG
AAT‐AGT
GAG‐TAG
TGG‐TAG
TGG‐TGA
AAG‐TAG
CGA‐TGA
CTC‐CCC
TAC‐TGC
TAC‐CAC
TAC‐TAG
CAA‐TAA
TCA‐TGA
AGT‐GGT
GAA‐TAA
TAT‐TAG
CAG‐TAG
Tyr2629Cys
Cys2631Tyr
Cys2633Arg
Tyr2639Asn
Tyr2639Cys
Cys2646Arg
Cys2652Gly
Cys2652Tyr
Gln2656Term
Cys2659Term
Ser2660Arg
Cys2663Ser
Gly2668Asp
Gly2668Cys
Gly2669Val
Arg2680Cys
Cys2686Arg
Cys2686Phe
Gly2691Ser
Arg2694Gln
Arg2694Term
Asn2708Ser
Ser2709Term
Glu2717Term
Arg2726Trp
Asn2740Ser
Glu2742Term
Trp2756Term
Trp2756Term
Lys2774Term
Arg2776Term
Leu2780Pro
Tyr2793Cys
Tyr2793His
Tyr2793Term
Gln2808Term
Ser2828Term
Ser2832Gly
Glu2841Term
Tyr2849Term
Gln2867Term
7886A>G
7892G>A
7897T>C
7915T>A
7916A>G
7936T>C
7954T>G
7955G>A
7966C>T
7977C>A
7978A>C
7988G>C
8003G>A
8002G>T
8006G>T
8038C>T
8056T>C
8057G>T
8071G>A
8081G>A
8080C>T
8123A>G
8126C>G
8149G>T
8176C>T
8219A>G
8224G>T
8267G>A
8268G>A
8320A>T
8326C>T
8339T>C
8378A>G
8377T>C
8379C>G
8422C>T
8483C>G
8494A>G
8521G>T
8547T>G
8599C>T
Y2629C
C2631Y
C2633R
Y2639N
Y2639C
C2646R
C2652G
C2652Y
Q2656*
C2659*
S2660R
C2663S
G2668D
G2668C
G2669V
R2680C
C2686R
C2686F
G2691S
R2694Q
R2694*
N2708S
S2709*
E2717*
R2726W
N2740S
E2742*
W2756*
W2756*
K2774*
R2776*
L2780P
Y2793C
Y2793H
Y2793*
Q2808*
S2828*
S2832G
E2841*
Y2849*
Q2867*
FBN1
CM145707
GAT‐AAT
Asp730Asn
2188G>A
D730N
FBN1
CM145737
GTG‐ATG
Val1172Met
3514G>A
V1172M
FBN1
CM145738
TGC‐TGA
Cys1182Term
3546C>A
C1182*
FBN1
CM145739
CCT‐TCT
Pro1258Ser
3772C>T
P1258S
FBN1
CM145740
GAG‐GCG
Glu1283Ala
3848A>C
E1283A
FBN1
CM145759
GGC‐GAC
Gly1334Asp
4001G>A
G1334D
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Arbustini (2005) Hum Mutat 26:494
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Stevic (2014) Biochem Genet epub:epub
Matyas (2002) Hum Mutat 19:443
Matyas (2002) Hum Mutat 19:443
Baetens (2011) Hum Mutat 32:1053
Korkko (2002) J Med Genet 39:34
Howarth (2007) Genet Test 11:146
Stheneur (2009) Eur J Hum Genet 17:1121
Magyar (2009) Hum Mutat 30:1355
Sakai (2006) Am J Med Genet A 140A:1719
Uyeda (2004) J Hum Genet 49:404
Matyas (2002) Hum Mutat 19:443
Loeys (2001) Arch Intern Med 161:2447
Stheneur (2009) Eur J Hum Genet 17:1121
Grossfield (1993) Am J Hum Genet 53S:A1167
Howarth (2007) Genet Test 11:146
Liu (1997) Genet Test 1:237
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Hung (2009) Ann Hum Genet 73:559
Biggin (2004) Hum Mutat 23:99
Chung (2009) Am J Med Genet A 149A:1452
Pees (2013) Clin Genet epub:epub
Loeys (2001) Arch Intern Med 161:2447
Milewicz (1995) J Clin Invest 95:2373
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Howarth (2007) Genet Test 11:146
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Kainulainen (1992) Proc Natl Acad Sci U S A 89:5917
Attanasio (2008) Clin Genet 74:39
Hayward (1994) Hum Mutat 3:159
Halliday (2002) J Med Genet 39:589
Tjeldhorn (2006) Genet Test 10:258
Baetens (2011) Hum Mutat 32:1053
Arbustini (2005) Hum Mutat 26:494
Tjeldhorn (2006) Genet Test 10:258
Lerner‐Ellis (2014) Mol Genet Metab 112:171
Hung (2009) Ann Hum Genet 73:559
Ogawa (2011) Am J Cardiol 108:1801
Gao (2010) Chin Med J (Engl) 123:2874
Stheneur (2009) Eur J Hum Genet 17:1121
PubMed 16222657
PubMed 24793577
PubMed 24504995
PubMed 11933199
PubMed 11933199
PubMed 21542060
PubMed 11826022
PubMed 17627385
PubMed 19293843
PubMed 19618372
PubMed 16835936
PubMed 15221638
PubMed 11933199
PubMed 11700157
PubMed 19293843
Source: Meeting abstract
PubMed 17627385
PubMed 10464652
PubMed 24793577
PubMed 19839986
PubMed 14695540
PubMed 19533785
PubMed 24199744
PubMed 11700157
PubMed 7738200
PubMed 24793577
PubMed 17627385
PubMed 24793577
PubMed 1631074
PubMed 18435798
PubMed 7911051
PubMed 12161601
PubMed 17253931
PubMed 21542060
PubMed 16222657
PubMed 17253931
PubMed 24793577
PubMed 19839986
PubMed 21907952
PubMed 21034599
PubMed 19293843
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
www.ngpd.it
Elenco mutazioni NGPD
FBN1
CM145761
TGC‐AGC
Cys1350Ser
4048T>A
C1350S
FBN1
CM145763
ATC‐AGC
Ile1455Ser
4364T>G
I1455S
FBN1
CM145764
TGT‐TAT
Cys1456Tyr
4367G>A
C1456Y
FBN1
CM145765
AGC‐GGC
Ser1481Gly
4441A>G
S1481G
FBN1
CM013930
CGA‐TGA
Arg1596Term
4786C>T
R1596*
FBN1
CM145778
CAG‐TAG
Gln1813Term
5437C>T
Q1813*
FBN1
CM145783
CAG‐TAG
Gln1957Term
5869C>T
Q1957*
FBN1
CM145785
GAG‐TAG
Glu2097Term
6289G>T
E2097*
FBN1
CM145789
TGT‐TGG
Cys2210Trp
6630T>G
C2210W
FBN1
CM145791
GAT‐GGT
Asp2249Gly
6746A>G
D2249G
FBN1
CM145804
GGA‐GTA
Gly2395Val
7184G>T
G2395V
FBN1
CM145806
GAA‐GCA
Glu2527Ala
7580A>C
E2527A
FBN1
CM145807
GGC‐GTC
Gly2595Val
7784G>T
G2595V
FBN1
CM145814
CAG‐CCG
Gln2867Pro
8600A>C
Q2867P
FBN1
CM086598
GAT‐GTT
Asp2485Val
7454A>T
D2485V
FBN1
CM086599
TGC‐AGC
Cys2581Ser
7741T>A
C2581S
FBN1
CM085403
GCC‐CCC
Ala39Pro
115G>C
A39P
FBN1
CM074828
GGT‐GAT
Gly127Asp
380G>A
G127D
FBN1
CM074831
TGT‐CGT
Cys160Arg
478T>C
C160R
FBN1
CM074832
TGT‐CGT
Cys504Arg
1510T>C
C504R
FBN1
CM147404
TGT‐TTT
Cys652Phe
1955G>T
C652F
FBN1
CM074836
TCA‐TAA
Ser752Term
2255C>A
S752*
FBN1
CM098666
TTG‐TCG
Leu838Ser
2513T>C
L838S
FBN1
CM074810
CGC‐TGC
Arg954Cys
2860C>T
R954C
FBN1
CM074825
GAG‐TAG
Glu966Term
2896G>T
E966*
FBN1
CM074821
GAT‐GGT
Asp1028Gly
3083A>G
D1028G
FBN1
CM098680
ATT‐ACT
Ile1198Thr
3593T>C
I1198T
FBN1
CM098607
TCA‐TAA
Ser1302Term
3905C>A
S1302*
FBN1
CM098616
CAG‐TAG
Gln1376Term
4126C>T
Q1376*
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome features
Marfan syndrome with intracranial hypertension
Marfan syndrome with intracranial hypertension
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Loeys (2001) Arch Intern Med 161:2447
PubMed 11700157
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Lerner‐Ellis (2014) Mol Genet Metab 112:171
PubMed 24793577
Hilhorst‐Hofstee (2008) J Child Neurol 23:954
PubMed 18354149
Hilhorst‐Hofstee (2008) J Child Neurol 23:954
PubMed 18354149
Attanasio (2008) Clin Genet 74:39
PubMed 18435798
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Li (2014) Mol Vis 20:1017
PubMed 25053872
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Stheneur (2009) Eur J Hum Genet 17:1121
PubMed 19293843
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Stheneur (2009) Eur J Hum Genet 17:1121
PubMed 19293843
Stheneur (2009) Eur J Hum Genet 17:1121
PubMed 19293843
Stheneur (2009) Eur J Hum Genet 17:1121
PubMed 19293843
www.ngpd.it
Elenco mutazioni NGPD
FBN1
CM074798
TAC‐GAC
Tyr1427Asp
4279T>G
Y1427D
FBN1
CM074862
TGT‐TCT
Cys1633Ser
4898G>C
C1633S
FBN1
CM074863
TGT‐TTT
Cys1777Phe
5330G>T
C1777F
FBN1
CM074827
GGA‐TGA
Gly1796Term
5386G>T
G1796*
FBN1
CM074860
TGT‐TAT
Cys1812Tyr
5435G>A
C1812Y
FBN1
CM074789
AAC‐AGC
Asn1907Ser
5720A>G
N1907S
FBN1
CM074796
GAT‐CAT
Asp1930His
5788G>C
D1930H
FBN1
CM074840
GAG‐AAG
Glu2105Lys
6313G>A
E2105K
FBN1
CM074830
GTC‐GAC
Val2136Asp
6407T>A
V2136D
FBN1
CM074838
GAA‐TAA
Glu2169Term
6505G>T
E2169*
FBN1
CM074804
ATT‐ACT
Ile2185Thr
6554T>C
I2185T
FBN1
CM074826
GGA‐AGA
Gly2195Arg
6583G>A
G2195R
FBN1
CM074806
ACT‐CCT
Thr2224Pro
6670A>C
T2224P
FBN1
CM074839
GAA‐TAA
Glu2229Term
6685G>T
E2229*
FBN1
CM074800
ATG‐ACG
Met2273Thr
6818T>C
M2273T
FBN1
CM074868
TGT‐TGG
Cys2289Trp
6867T>G
C2289W
FBN1
CM074861
TGT‐TAT
Cys2302Tyr
6905G>A
C2302Y
FBN1
CM074853
TGC‐TGG
Cys2470Trp
7410C>G
C2470W
FBN1
CM074794
ACC‐ATC
Thr2516Ile
7547C>T
T2516I
FBN1
CM074791
AAT‐AGT
Asn2526Ser
7577A>G
N2526S
FBN1
CM074847
TGC‐TTC
Cys2541Phe
7622G>T
C2541F
FBN1
CM074822
CGG‐TGG
Arg2554Trp
7660C>T
R2554W
FBN1
CM074819
AAA‐TAA
Lys2840Term
8518A>T
K2840*
FBN1
CM111082
TGC‐CGC
Cys1044Arg
3130T>C
C1044R
FBN1
CM111083
TGC‐GGC
Cys1068Gly
3202T>G
C1068G
FBN1
CM111084
TGT‐CGT
Cys1097Arg
3289T>C
C1097R
FBN1
CM111085
TGT‐CGT
Cys1117Arg
3349T>C
C1117R
FBN1
CM111086
TGC‐TTC
Cys1140Phe
3419G>T
C1140F
FBN1
CM137732
TGT‐TAT
Cys1320Tyr
3959G>A
C1320Y
FBN1
CM098688
AAG‐AAC
Lys1381Asn
4143G>C
K1381N
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, incomplete
Marfan syndrome, neonatal
Marfan syndrome, neonatal
Marfan syndrome, neonatal
Marfan syndrome, neonatal
Marfan syndrome, neonatal
Marfan syndrome, neonatal
Marfan syndrome, neonatal
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Comeglio (2007) Hum Mutat 28:928
PubMed 17657824
Stheneur (2011) Pediatr Res 69:265
PubMed 21135753
Stheneur (2011) Pediatr Res 69:265
PubMed 21135753
Stheneur (2011) Pediatr Res 69:265
PubMed 21135753
Stheneur (2011) Pediatr Res 69:265
PubMed 21135753
Stheneur (2011) Pediatr Res 69:265
PubMed 21135753
Elshershari (2013) Cardiol Young epub:1
PubMed 23930893
Stheneur (2009) Eur J Hum Genet 17:1121
PubMed 19293843
www.ngpd.it
Elenco mutazioni NGPD
FGFR1
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
CM940776
CM950458
CM950459
CM119685
CM970526
CM036118
CM003312
CCT‐CGT
TCG‐TGG
CCT‐CGT
TGC‐CGC
TCG‐TTG
CAC‐TAC
CCG‐CTG
Pro252Arg
Ser252Trp
Pro253Arg
Cys62Arg
Ser252Leu
His254Tyr
Pro263Leu
755C>G
755C>G
758C>G
184T>C
755C>T
760C>T
788C>T
P252R
S252W
P253R
C62R
S252L
H254Y
P263L
Pfeiffer syndrome
Apert syndrome
Apert syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
CM1313530
CM060998
CM950460
CM980750
CM950461
CM003313
CM013715
GCC‐CCC
TCC‐TTC
TCC‐CCC
TTT‐GTT
TGC‐TTC
TGC‐TAC
TAC‐TGC
Ala266Pro
Ser267Phe
Ser267Pro
Phe276Val
Cys278Phe
Cys278Tyr
Tyr281Cys
796G>C
800C>T
799T>C
826T>G
833G>T
833G>A
842A>G
A266P
S267F
S267P
F276V
C278F
C278Y
Y281C
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
CM1313532
CM060994
CM003314
CM950462
CM950463
CM950464
AGT‐TGT
ATC‐AAC
ATC‐AGC
CAG‐CCG
TGG‐CGG
TGG‐GGG
Ser282Cys
Ile288Asn
Ile288Ser
Gln289Pro
Trp290Arg
Trp290Gly
844A>T
863T>A
863T>G
866A>C
868T>C
868T>G
S282C
I288N
I288S
Q289P
W290R
W290G
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
CM1313533
CM970529
CM980751
CM060996
CM940777
CM960645
CM076185
CM980753
CM950466
TGG‐TCG
AAG‐GAG
TAC‐TGC
TAC‐TGC
TAT‐TGT
AAT‐ATT
GAC‐GGC
GCT‐CCT
GGG‐CGG
Trp290Ser
Lys292Glu
Tyr301Cys
Tyr308Cys
Tyr328Cys
Asn331Ile
Asp336Gly
Ala337Pro
Gly338Arg
869G>C
874A>G
902A>G
923A>G
983A>G
992A>T
1007A>G
1009G>C
1012G>C
W290S
K292E
Y301C
Y308C
Y328C
N331I
D336G
A337P
G338R
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
CM1313534
CM940778
CM060997
CM940781
CM940780
CM950468
CM940779
CM940783
CM940784
CM060999
CM003315
CM061000
CM994121
TAT‐AAT
TAT‐CAT
TAT‐TCT
TGC‐CGC
TGC‐AGC
TGC‐TGG
TGC‐TAC
TCT‐TGT
TCT‐TGT
TCT‐TTT
TCT‐TAT
TTG‐TCG
GCG‐TCG
Tyr340Asn
Tyr340His
Tyr340Ser
Cys342Arg
Cys342Ser
Cys342Trp
Cys342Tyr
Ser347Cys
Ser354Cys
Ser354Phe
Ser354Tyr
Leu357Ser
Ala362Ser
1018T>A
1018T>C
1019A>C
1024T>C
1024T>A
1026C>G
1025G>A
1040C>G
1061C>G
1061C>T
1061C>A
1070T>C
1084G>T
Y340N
Y340H
Y340S
C342R
C342S
C342W
C342Y
S347C
S354C
S354F
S354Y
L357S
A362S
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
CM1313536
CM144764
CM050617
CM020140
CM137634
CM020145
CM970527
AAG‐GAG
TAC‐AAC
AAA‐GAA
AAT‐CAT
TTG‐TTC
AGA‐GGA
TGG‐TGC
Lys367Glu
Tyr381Asn
Lys526Glu
Asn549His
Leu617Phe
Arg678Gly
Trp290Cys
1099A>G
1141T>A
1576A>G
1645A>C
1851G>C
2032A>G
870G>C
K367E
Y381N
K526E
N549H
L617F
R678G
W290C
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Crouzon syndrome
Pfeiffer syndrome
Muenke (1994) Nat Genet 8:269
Wilkie (1995) Nat Genet 9:165
Wilkie (1995) Nat Genet 9:165
Sharma (2012) Cleft Palate Craniofac J 49:373
Oldridge (1997) Hum Mol Genet 6:137
Chun (2003) Am J Med Genet A 120A:470
Kress (2000) Cytogenet Cell Genet 91:134
Roscioli (2013) Am J Med Genet C Semin Med Genet 163:259
Lajeunie (2006) Eur J Hum Genet 14:289
Oldridge (1995) Hum Mol Genet 4:1077
Steinberger (1998) Hum Genet 102:145
Oldridge (1995) Hum Mol Genet 4:1077
Kress (2000) Cytogenet Cell Genet 91:134
Tsai (2001) Pediatr Int 43:263
Roscioli (2013) Am J Med Genet C Semin Med Genet 163:259
Lajeunie (2006) Eur J Hum Genet 14:289
Kress (2000) Cytogenet Cell Genet 91:134
Oldridge (1995) Hum Mol Genet 4:1077
Oldridge (1995) Hum Mol Genet 4:1077
Park (1995) Hum Mol Genet 4:1229
Roscioli (2013) Am J Med Genet C Semin Med Genet 163:259
Steinberger (1997) J Med Genet 34:420
Steinberger (1998) Hum Genet 102:145
Lajeunie (2006) Eur J Hum Genet 14:289
Jabs (1994) Nat Genet 8:275
Steinberger (1996) Hum Mutat 8:386
Stenirri (2007) Clin Chem 53:1767
Passos‐Bueno (1998) Am J Med Genet 78:237
Gorry (1995) Hum Mol Genet 4:1387
Roscioli (2013) Am J Med Genet C Semin Med Genet 163:259
Reardon (1994) Nat Genet 8:98
Lajeunie (2006) Eur J Hum Genet 14:289
Reardon (1994) Nat Genet 8:98
Reardon (1994) Nat Genet 8:98
Park (1995) Hum Mol Genet 4:1229
Reardon (1994) Nat Genet 8:98
Jabs (1994) Nat Genet 8:275
Reardon (1994) Nat Genet 8:98
Chun (2003) Am J Med Genet A 120A:470
Kress (2000) Cytogenet Cell Genet 91:134
Lajeunie (2006) Eur J Hum Genet 14:289
Everett (1999) Cleft Palate Craniofac J 36:533
Roscioli (2013) Am J Med Genet C Semin Med Genet 163:259
Collet (2014) Clin Genet 85:598
de Ravel (2005) Eur J Hum Genet 13:503
Kan (2002) Am J Hum Genet 70:472
Suh (2013) J Cell Biochem epub:epub
Kan (2002) Am J Hum Genet 70:472
Tartaglia (1997) Hum Genet 99:602
PubMed 7874169
PubMed 7719344
PubMed 7719344
PubMed 22117175
PubMed 9002682
PubMed 12884424
PubMed 11173845
PubMed 24127277
PubMed 16418739
PubMed 7655462
PubMed 9521581
PubMed 7655462
PubMed 11173845
PubMed 11380921
PubMed 24127277
PubMed 16418739
PubMed 11173845
PubMed 7655462
PubMed 7655462
PubMed 8528214
PubMed 24127277
PubMed 9152842
PubMed 9521581
PubMed 16418739
PubMed 7874170
PubMed 8956050
PubMed 17693524
PubMed 9677057
PubMed 7581378
PubMed 24127277
PubMed 7987400
PubMed 16418739
PubMed 7987400
PubMed 7987400
PubMed 8528214
PubMed 7987400
PubMed 7874170
PubMed 7987400
PubMed 12884424
PubMed 11173845
PubMed 16418739
PubMed 10574673
PubMed 24127277
PubMed 23808569
PubMed 15523492
PubMed 11781872
PubMed 23913723
PubMed 11781872
PubMed 9150725
www.ngpd.it
Elenco mutazioni NGPD
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR2
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
FGFR3
CM950465
CM990594
CM950467
CM990595
CM128464
CM043278
CM020141
CM020142
CM020144
CM073067
CM066079
CM010888
CM950472
CM940785
CM940786
CM034415
CM066084
CM128685
CM066080
CM066078
CM128684
CM066081
CM066083
CM084803
CM121343
CM000015
CM135371
CM084804
CM084805
CM066082
CM084808
CM970530
CM950474
CM950475
CM000382
CM980754
CM002965
CM002966
CM002967
GAC‐GCC
TAT‐TGT
ACG‐CCG
TGC‐GGC
ATG‐GTG
GAG‐GCG
GAG‐GGG
AAA‐AGA
GGG‐GAG
AGC‐TGC
AGT‐TGT
GGG‐GAG
GGC‐TGC
GGG‐AGG
GGG‐CGG
ACG‐TCG
TCG‐TTG
CAG‐CTG
CGC‐TGC
AAC‐CAC
ACG‐ATG
GGC‐TGC
TAC‐TGC
GGC‐TGC
CTC‐GTC
AAC‐ATC
GGC‐TGC
TCT‐TGT
GAG‐AAG
GTG‐GAG
CAG‐CGG
ATC‐GTC
AAC‐AAA
AAC‐AAG
AAC‐AGC
AAC‐ACC
AAG‐AAC
AAG‐AAT
AAG‐CAG
Asp321Ala
Tyr340Cys
Thr341Pro
Cys342Gly
Met400Val
Glu565Ala
Glu565Gly
Lys641Arg
Gly663Glu
Ser217Cys
Ser279Cys
Gly346Glu
Gly375Cys
Gly380Arg
Gly380Arg
Thr394Ser
Ser84Leu
Gln115Leu
Arg200Cys
Asn262His
Thr264Met
Gly268Cys
Tyr278Cys
Gly295Cys
Leu324Val
Asn328Ile
Gly342Cys
Ser351Cys
Glu360Lys
Val381Glu
Gln485Arg
Ile538Val
Asn540Lys
Asn540Lys
Asn540Ser
Asn540Thr
Lys650Asn
Lys650Asn
Lys650Gln
962A>C
1019A>G
1021A>C
1024T>G
1198A>G
1694A>C
1694A>G
1922A>G
1988G>A
649A>T
835A>T
1037G>A
1123G>T
1138G>A
1138G>C
1180A>T
251C>T
344A>T
598C>T
784A>C
791C>T
802G>T
833A>G
883G>T
970C>G
983A>T
1024G>T
1052C>G
1078G>A
1142T>A
1454A>G
1612A>G
1620C>A
1620C>G
1619A>G
1619A>C
1950G>C
1950G>T
1948A>C
D321A
Y340C
T341P
C342G
M400V
E565A
E565G
K641R
G663E
S217C
S279C
G346E
G375C
G380R
G380R
T394S
S84L
Q115L
R200C
N262H
T264M
G268C
Y278C
G295C
L324V
N328I
G342C
S351C
E360K
V381E
Q485R
I538V
N540K
N540K
N540S
N540T
K650N
K650N
K650Q
FKTN
CM080364
GGC‐AGC
Gly125Ser
373G>A
G125S
FKTN
CM086816
CAC‐CGC
His186Arg
557A>G
H186R
FKTN
CM110067
CTG‐CCG
Leu281Pro
842T>C
L281P
FKTN
CM074169
CGA‐TGA
Arg307Term
919C>T
R307*
FKTN
CM086817
TAC‐TAA
Tyr392Term
1176C>A
Y392*
Pfeiffer syndrome
Pfeiffer syndrome
Pfeiffer syndrome
Pfeiffer syndrome
Pfeiffer syndrome
Pfeiffer syndrome
Pfeiffer syndrome
Pfeiffer syndrome
Pfeiffer syndrome
Achondroplasia
Achondroplasia
Achondroplasia
Achondroplasia
Achondroplasia
Achondroplasia
Achondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Hypochondroplasia
Walker‐Warburg syndrome
Walker‐Warburg syndrome
Walker‐Warburg syndrome
Walker‐Warburg syndrome
Walker‐Warburg syndrome
GALT
GALT
GALT
GALT
CM074197
CM023625
CM095708
CM013716
ATG‐GTG
CAG‐CAC
CAG‐TAG
ACC‐GCC
Met1Val
Gln9His
Gln9Term
Thr23Ala
1A>G
27G>C
25C>T
67A>G
M1V
Q9H
Q9*
T23A
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Lajeunie (1995) Nat Genet 9:108
Cornejo‐Roldan (1999) Hum Genet 104:425
Rutland (1995) Nat Genet 9:173
Cornejo‐Roldan (1999) Hum Genet 104:425
Koga (2012) Am J Med Genet A 158A:2506
Zankl (2004) Am J Med Genet 131A:299
Kan (2002) Am J Hum Genet 70:472
Kan (2002) Am J Hum Genet 70:472
Kan (2002) Am J Hum Genet 70:472
Zhang (2007) Chin Med J (Engl) 120:1017
Heuertz (2006) Eur J Hum Genet 14:1240
Chen (2001) Prenat Diagn 21:89
Ikegawa (1995) Hum Genet 96:309
Shiang (1994) Cell 78:335
Shiang (1994) Cell 78:335
20:373
Heuertz (2006) Eur J Hum Genet 14:1240
Song (2012) Am J Med Genet A 158A:2456
Heuertz (2006) Eur J Hum Genet 14:1240
Heuertz (2006) Eur J Hum Genet 14:1240
Song (2012) Am J Med Genet A 158A:2456
Heuertz (2006) Eur J Hum Genet 14:1240
Heuertz (2006) Eur J Hum Genet 14:1240
Baujat (2008) Best Pract Res Clin Rheumatol 22:3
Saito (2012) Am J Med Genet A 158A:630
Winterpacht (2000) Physiol Genomics 2:9
Wang (2013) Clin Chim Acta 423:62
Baujat (2008) Best Pract Res Clin Rheumatol 22:3
Baujat (2008) Best Pract Res Clin Rheumatol 22:3
Heuertz (2006) Eur J Hum Genet 14:1240
Baujat (2008) Best Pract Res Clin Rheumatol 22:3
Grigelioniene (1997) Hum Mutat 11:333
Bellus (1995) Nat Genet 10:357
Prinos (1995) Hum Mol Genet 4:2097
Mortier (2000) J Med Genet 37:220
Deutz‐Terlouw (1998) Hum Mutat S1:S62
Bellus (2000) Am J Hum Genet 67:1411
Bellus (2000) Am J Hum Genet 67:1411
Bellus (2000) Am J Hum Genet 67:1411
PubMed 7719333
PubMed 10394936
PubMed 7719345
PubMed 10394936
PubMed 22965899
PubMed 15523615
PubMed 11781872
PubMed 11781872
PubMed 11781872
PubMed 17624273
PubMed 16912704
PubMed 11241532
PubMed 7649548
PubMed 7913883
PubMed 7913883
PubMed 14556186
PubMed 16912704
PubMed 22903874
PubMed 16912704
PubMed 16912704
PubMed 22903874
PubMed 16912704
PubMed 16912704
PubMed 18328977
PubMed 22302603
PubMed 11015576
PubMed 23726269
PubMed 18328977
PubMed 18328977
PubMed 16912704
PubMed 18328977
PubMed 10215410
PubMed 7670477
PubMed 8589686
PubMed 10777366
PubMed 9452043
PubMed 11055896
PubMed 11055896
PubMed 11055896
Cotarelo (2008) Clin Genet 73:139
PubMed 18177472
Chiara Manzini (2008) Hum Mutat 29:E231
PubMed 18752264
Yis (2011) Neuromuscul Disord 21:20
PubMed 20961758
Godfrey (2007) Brain 130:2725
PubMed 17878207
Chiara Manzini (2008) Hum Mutat 29:E231
University of Bristol (2007) GALT LSDB entry Unpublished:.
Item (2002) Pediatr Res 51:511
Gort (2009) Med Clin (Barc) 132:709
Yang (2001) Hum Mutat 19:82
PubMed 18752264
Source: LSDB
PubMed 11919338
PubMed 19375122
PubMed 11754113
www.ngpd.it
Elenco mutazioni NGPD
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM994051
CM065205
CM970608
CM074195
CM108439
CM074210
CM970609
CM065206
CM074207
GAC‐AAC
GAC‐CAC
GAC‐TAC
CAG‐CAC
CAT‐CGT
CAT‐AAT
ATC‐AAC
CGC‐CAC
TAC‐AAC
Asp28Asn
Asp28His
Asp28Tyr
Gln30His
His31Arg
His31Asn
Ile32Asn
Arg33His
Tyr34Asn
82G>A
82G>C
82G>T
90G>C
92A>G
91C>A
95T>A
98G>A
100T>A
D28N
D28H
D28Y
Q30H
H31R
H31N
I32N
R33H
Y34N
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM074200
CM012751
CM970610
CM129664
CM990626
CM910167
CM990627
CM129699
CM051924
CM990628
CM012752
CM973031
CM990629
CM045617
CM994052
CM950545
CM012753
CM012754
CM012755
CM920292
CM990630
CM921009
CCG‐CTG
CTG‐CCG
CAG‐CCG
TGG‐TAG
GTG‐TTG
GTG‐ATG
TCA‐TTA
CGC‐TGC
CGG‐CAG
CGG‐CTG
TGG‐AGG
CAG‐TAG
GGT‐TGT
CCC‐CAC
CCC‐CTC
CGC‐TGC
CGC‐CAC
CAT‐CCT
CCT‐CTT
CTG‐CCG
CGA‐TGA
GCC‐ACC
Pro36Leu
Leu37Pro
Gln38Pro
Trp41Term
Val44Leu
Val44Met
Ser45Leu
Arg48Cys
Arg51Gln
Arg51Leu
Trp53Arg
Gln54Term
Gly55Cys
Pro66His
Pro66Leu
Arg67Cys
Arg67His
His68Pro
Pro73Leu
Leu74Pro
Arg80Term
Ala81Thr
107C>T
110T>C
113A>C
122G>A
130G>T
130G>A
134C>T
142C>T
152G>A
152G>T
157T>A
160C>T
163G>T
197C>A
197C>T
199C>T
200G>A
203A>C
218C>T
221T>C
238C>T
241G>A
P36L
L37P
Q38P
W41*
V44L
V44M
S45L
R48C
R51Q
R51L
W53R
Q54*
G55C
P66H
P66L
R67C
R67H
H68P
P73L
L74P
R80*
A81T
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
GALT
GALT
CM074205
CM012756
GGA‐AGA
AAT‐GAT
Gly83Arg
Asn86Asp
247G>A
256A>G
G83R
N86D
Galactosaemia
Galactosaemia
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM074216
CM129438
CM994053
CM129698
CM973226
CM990631
CM074203
CM129439
CM088182
CM990632
CM012757
CM983668
CM139539
CM012758
CM990633
CM990634
CM990635
TAC‐GAC
TAC‐CAC
TTT‐TTG
AAC‐GAC
AAC‐AGC
GAC‐AAC
GAC‐CAC
CAG‐CGG
AGT‐AGG
GAT‐AAT
CAT‐CTT
CAT‐CCT
CTT‐CCT
CTT‐GTT
TTC‐TCC
CAA‐CAC
CGA‐CAA
Tyr89Asp
Tyr89His
Phe95Leu
Asn97Asp
Asn97Ser
Asp98Asn
Asp98His
Gln103Arg
Ser112Arg
Asp113Asn
His114Leu
His114Pro
Leu116Pro
Leu116Val
Phe117Ser
Gln118His
Arg123Gln
265T>G
265T>C
285T>G
289A>G
290A>G
292G>A
292G>C
308A>G
336T>G
337G>A
341A>T
341A>C
347T>C
346C>G
350T>C
354A>C
368G>A
Y89D
Y89H
F95L
N97D
N97S
D98N
D98H
Q103R
S112R
D113N
H114L
H114P
L116P
L116V
F117S
Q118H
R123Q
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Tang (1999) GALT LSDB entry Pers comm:
Gort (2006) J Inherit Metab Dis 29:739
Greber‐Platzer (1997) Hum Mutat 10:49
O'Brien (2007) GALT LSDB entry Unpublished:.
Ko (2010) Clin Chim Acta 411:1506
Boutron (2012) Mol Genet Metab 107:438
Greber‐Platzer (1997) Hum Mutat 10:49
Gort (2006) J Inherit Metab Dis 29:739
Calderon (2007) GALT LSDB entry Unpublished:.
University of Bristol (2007) GALT LSDB entry Unpublished:.
Emory (2001) GALT LSDB entry Unpublished:
Greber‐Platzer (1997) Hum Mutat 10:49
Boutron (2012) Mol Genet Metab 107:438
Tyfield (1999) Hum Mutat 13:417
Reichardt (1991) Proc Natl Acad Sci U S A 88:2633
Tyfield (1999) Hum Mutat 13:417
Boutron (2012) Mol Genet Metab 107:438
Bosch (2005) Hum Mutat 25:502
Tyfield (1999) Hum Mutat 13:417
Emory (2001) GALT LSDB entry Unpublished:
Langley (1997) Am J Hum Genet 60:366
Tyfield (1999) Hum Mutat 13:417
Shin (2004) Bratisl Lek Listy 105:315
Zekanowski (1999) GALT LSDB entry Pers comm:
Sommer (1995) J Inherit Metab Dis 18:567
Boutron (2012) Mol Genet Metab 107:438
Emory (2001) GALT LSDB entry Unpublished:
Emory (2001) GALT LSDB entry Unpublished:
Reichardt (1992) Biochemistry 31:5430
Tyfield (1999) Hum Mutat 13:417
Leslie (1992) Genomics 14:474
University of Bristol (2007) GALT LSDB entry Unpublished:.
Emory (2001) GALT LSDB entry Unpublished:
University of Bristol (2007) GALT LSDB entry Unpublished:.
Singh (2012) Clin Chim Acta 414C:191
Zekanowski (1999) GALT LSDB entry Pers comm:
Boutron (2012) Mol Genet Metab 107:438
Hirokawa (1999) Eur J Hum Genet 7:757
Tyfield (1999) Hum Mutat 13:417
O'Brien (2007) GALT LSDB entry Unpublished:.
Singh (2012) Clin Chim Acta 414C:191
epub:epub
Tyfield (1999) Hum Mutat 13:417
Emory (2001) GALT LSDB entry Unpublished:
Elsas (1998) Genet Med 1:40
Estrada (2013) Kobe J Med Sci 59:E106
Emory (2001) GALT LSDB entry Unpublished:
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Source: LSDB
PubMed 17041746
PubMed 9222760
Source: LSDB
PubMed 20547145
PubMed 22944367
PubMed 9222760
PubMed 17041746
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 9222760
PubMed 22944367
PubMed 10408771
PubMed 2011574
PubMed 10408771
PubMed 22944367
PubMed 15841485
PubMed 10408771
Source: LSDB
PubMed 9012409
PubMed 10408771
PubMed 15633893
Source: LSDB
PubMed 8598637
PubMed 22944367
Source: LSDB
Source: LSDB
PubMed 1610789
PubMed 10408771
PubMed 1427861
Source: LSDB
Source: LSDB
Source: LSDB
PubMed 23022339
Source: LSDB
PubMed 22944367
PubMed 10573007
PubMed 10408771
Source: LSDB
PubMed 23022339
PubMed 18956253
PubMed 10408771
Source: LSDB
PubMed 11261429
PubMed 24045215
Source: LSDB
PubMed 10408771
PubMed 10408771
PubMed 10408771
www.ngpd.it
Elenco mutazioni NGPD
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM970611
CM129665
CM990636
CM990637
CM129697
CM990638
CM990639
CGA‐GGA
CGA‐TGA
GTC‐GCC
AAG‐GAG
GTC‐ATC
ATG‐ACG
TGC‐TAC
Arg123Gly
Arg123Term
Val125Ala
Lys127Glu
Val128Ile
Met129Thr
Cys130Tyr
367C>G
367C>T
374T>C
379A>G
382G>A
386T>C
389G>A
R123G
R123*
V125A
K127E
V128I
M129T
C130Y
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM074218
CM129696
CM125422
CM990640
CM950546
CM129695
CM051925
CM129694
CM950547
CM921010
CM129693
CM910168
CM055272
CM990641
CM970612
CM129692
CM104110
CM950548
CM990642
CM920293
CM960688
CM950549
CM990644
CM990643
CM994054
CM990645
CM129440
CM990646
CM125423
CM129691
CM108440
CM993449
CM095709
CM125424
CM095713
CM920294
CM065207
CM012759
CM139540
CM990647
CM129690
CM095710
CM065209
CM129441
CM960689
TTC‐TGC
TTC‐TCC
CAC‐CAA
CAC‐TAC
TCG‐TTG
TCG‐CCG
TCG‐TGG
GAT‐CAT
ACG‐ATG
CTG‐CCG
ATG‐AGG
ATG‐AAG
ATG‐ACG
ATG‐GTG
TCG‐TTG
TCG‐TGG
GAG‐GAC
CGG‐CAG
CGG‐GGG
CGG‐TGG
GTT‐CTT
GTT‐GCT
TGG‐GGG
TGG‐TGA
CTG‐CCG
CAG‐TAG
CCT‐GCT
TGG‐CGG
GTG‐TTG
GTG‐ATG
CAG‐CAC
CAG‐AAG
ATC‐AAC
ATC‐ACC
TTT‐TGT
TTT‐TCT
GGT‐GAT
GCC‐GTC
ATG‐AGG
GGC‐GAC
GGC‐AGC
TGT‐TTT
TCT‐GCT
TCT‐TTT
CCC‐ACC
Phe131Cys
Phe131Ser
His132Gln
His132Tyr
Ser135Leu
Ser135Pro
Ser135Trp
Asp136His
Thr138Met
Leu139Pro
Met142Arg
Met142Lys
Met142Thr
Met142Val
Ser143Leu
Ser143Trp
Glu146Asp
Arg148Gln
Arg148Gly
Arg148Trp
Val150Leu
Val151Ala
Trp154Gly
Trp154Term
Leu161Pro
Gln164Term
Pro166Ala
Trp167Arg
Val168Leu
Val168Met
Gln169His
Gln169Lys
Ile170Asn
Ile170Thr
Phe171Cys
Phe171Ser
Gly175Asp
Ala176Val
Met178Arg
Gly179Asp
Gly179Ser
Cys180Phe
Ser181Ala
Ser181Phe
Pro183Thr
392T>G
392T>C
396C>A
394C>T
404C>T
403T>C
404C>G
406G>C
413C>T
416T>C
425T>G
425T>A
425T>C
424A>G
428C>T
428C>G
438G>C
443G>A
442C>G
442C>T
448G>C
452T>C
460T>G
462G>A
482T>C
490C>T
496C>G
499T>C
502G>T
502G>A
507G>C
505C>A
509T>A
509T>C
512T>G
512T>C
524G>A
527C>T
533T>G
536G>A
535G>A
539G>T
541T>G
542C>T
547C>A
F131C
F131S
H132Q
H132Y
S135L
S135P
S135W
D136H
T138M
L139P
M142R
M142K
M142T
M142V
S143L
S143W
E146D
R148Q
R148G
R148W
V150L
V151A
W154G
W154*
L161P
Q164*
P166A
W167R
V168L
V168M
Q169H
Q169K
I170N
I170T
F171C
F171S
G175D
A176V
M178R
G179D
G179S
C180F
S181A
S181F
P183T
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Greber‐Platzer (1997) Hum Mutat 10:49
Boutron (2012) Mol Genet Metab 107:438
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Boutron (2012) Mol Genet Metab 107:438
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
University of Bristol (2007) GALT LSDB entry Unpublished:.
Boutron (2012) Mol Genet Metab 107:438
Tang (2012) Hum Mutat 33:1107
Tyfield (1999) Hum Mutat 13:417
Fridovich (1995) Am J Hum Genet 56:640
Boutron (2012) Mol Genet Metab 107:438
Bosch (2005) Hum Mutat 25:502
Boutron (2012) Mol Genet Metab 107:438
Elsas (1995) Am J Hum Genet 56:630
Leslie (1992) Genomics 14:474
Boutron (2012) Mol Genet Metab 107:438
Reichardt (1991) Proc Natl Acad Sci U S A 88:2633
Zaffanello (2005) Genet Med 7:211
Tyfield (1999) Hum Mutat 13:417
Greber‐Platzer (1997) Hum Mutat 10:49
Boutron (2012) Mol Genet Metab 107:438
Milánkovics (2010) Wien Klin Wochenschr 122:95
Elsas (1995) Am J Hum Genet 56:630
Tyfield (1999) Hum Mutat 13:417
Reichardt (1992) Genomics 12:596
Maceratesi (1996) Hum Mutat 8:369
Elsas (1995) Am J Hum Genet 56:630
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) GALT LSDB entry Pers comm:
Tyfield (1999) Hum Mutat 13:417
Singh (2012) Clin Chim Acta 414C:191
Tyfield (1999) Hum Mutat 13:417
Tang (2012) Hum Mutat 33:1107
Boutron (2012) Mol Genet Metab 107:438
Ko (2010) Clin Chim Acta 411:1506
Kozak (1999) Hum Mutat 15:206
Gort (2009) Med Clin (Barc) 132:709
Tang (2012) Hum Mutat 33:1107
Gort (2009) Med Clin (Barc) 132:709
Reichardt (1992) Biochemistry 31:5430
Gort (2006) J Inherit Metab Dis 29:739
Emory (2001) GALT LSDB entry Unpublished:
Estrada (2013) Kobe J Med Sci 59:E106
Tyfield (1999) Hum Mutat 13:417
Boutron (2012) Mol Genet Metab 107:438
Gort (2009) Med Clin (Barc) 132:709
Gort (2006) J Inherit Metab Dis 29:739
Singh (2012) Clin Chim Acta 414C:191
Maceratesi (1996) Hum Mutat 8:369
PubMed 9222760
PubMed 22944367
PubMed 10408771
PubMed 10408771
PubMed 22944367
PubMed 10408771
PubMed 10408771
Source: LSDB
PubMed 22944367
PubMed 22461411
PubMed 10408771
PubMed 7887417
PubMed 22944367
PubMed 15841485
PubMed 22944367
PubMed 7887416
PubMed 1427861
PubMed 22944367
PubMed 2011574
PubMed 15775761
PubMed 10408771
PubMed 9222760
PubMed 22944367
PubMed 20213376
PubMed 7887416
PubMed 10408771
PubMed 1373122
PubMed 8956044
PubMed 7887416
PubMed 10408771
PubMed 10408771
Source: LSDB
PubMed 10408771
PubMed 23022339
PubMed 10408771
PubMed 22461411
PubMed 22944367
PubMed 20547145
PubMed 10649501
PubMed 19375122
PubMed 22461411
PubMed 19375122
PubMed 1610789
PubMed 17041746
Source: LSDB
PubMed 24045215
PubMed 10408771
PubMed 22944367
PubMed 19375122
PubMed 17041746
PubMed 23022339
PubMed 8956044
www.ngpd.it
Elenco mutazioni NGPD
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM994055
CM990648
CM074198
CM074199
CM065204
CM108441
CM994056
CM910169
CM129689
CM950550
CM065203
CM990649
CM920295
CM990651
CM990650
CM990652
CM074212
CM950551
CM950552
CM990653
CM990654
CM126934
CM129666
CM013717
CM990656
CM990655
CM074194
CM950553
CM990657
CM129688
CM074213
CM074215
CM129687
CM074201
CM129686
CM990658
CAC‐GAC
CAC‐CAA
CCC‐CAC
CCC‐CTC
CCC‐TCC
CAC‐CCC
CAC‐TAC
CAG‐CGG
GCC‐GAC
AGC‐AAC
AGC‐GGC
TTC‐CTC
CTG‐CCG
ATT‐ATG
ATT‐ACT
GCC‐ACC
CGT‐TGT
CGT‐CAT
GAG‐AAG
CGA‐CCA
CGA‐TGA
CAG‐CGG
CAG‐TAG
CAG‐TAG
TAT‐TGT
TAT‐TCT
CAG‐CCG
CAG‐TAG
CTG‐CCG
CTA‐CCA
CTA‐GTA
GAG‐AAG
TAC‐CAC
CGC‐AGC
GAG‐GGG
CTA‐CCA
His184Asp
His184Gln
Pro185His
Pro185Leu
Pro185Ser
His186Pro
His186Tyr
Gln188Arg
Ala191Asp
Ser192Asn
Ser192Gly
Phe194Leu
Leu195Pro
Ile198Met
Ile198Thr
Ala199Thr
Arg201Cys
Arg201His
Glu203Lys
Arg204Pro
Arg204Term
Gln206Arg
Gln206Term
Gln207Term
Tyr209Cys
Tyr209Ser
Gln212Pro
Gln212Term
Leu217Pro
Leu218Pro
Leu218Val
Glu220Lys
Tyr221His
Arg223Ser
Glu225Gly
Leu226Pro
550C>G
552C>A
554C>A
554C>T
553C>T
557A>C
556C>T
563A>G
572C>A
575G>A
574A>G
580T>C
584T>C
594T>G
593T>C
595G>A
601C>T
602G>A
607G>A
611G>C
610C>T
617A>G
616C>T
619C>T
626A>G
626A>C
635A>C
634C>T
650T>C
653T>C
652C>G
658G>A
661T>C
667C>A
674A>G
677T>C
H184D
H184Q
P185H
P185L
P185S
H186P
H186Y
Q188R
A191D
S192N
S192G
F194L
L195P
I198M
I198T
A199T
R201C
R201H
E203K
R204P
R204*
Q206R
Q206*
Q207*
Y209C
Y209S
Q212P
Q212*
L217P
L218P
L218V
E220K
Y221H
R223S
E225G
L226P
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM074214
CM125425
CM051926
CM994057
CM950554
CM095711
CM012760
CM129685
CM990660
CM129684
CM990659
CTA‐GTA
CTC‐CCC
AAG‐AAT
CGT‐TGT
CGT‐CAT
GTC‐CTC
GTC‐TTC
CCC‐CAC
TGG‐CGG
TGG‐GGG
TGG‐TGA
Leu226Val
Leu227Pro
Lys229Asn
Arg231Cys
Arg231His
Val233Leu
Val243Phe
Pro244His
Trp249Arg
Trp249Gly
Trp249Term
676C>G
680T>C
687G>T
691C>T
692G>A
697G>C
727G>T
731C>A
745T>C
745T>G
747G>A
L226V
L227P
K229N
R231C
R231H
V233L
V243F
P244H
W249R
W249G
W249*
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
GALT
GALT
GALT
GALT
CM074211
CM990662
CM990661
CM051927
CCC‐ACC
TAC‐TGC
TAC‐TCC
CAG‐CAT
Pro250Thr
Tyr251Cys
Tyr251Ser
Gln252His
748C>A
752A>G
752A>C
756G>T
P250T
Y251C
Y251S
Q252H
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Tang (1999) GALT LSDB entry Pers comm:
Tyfield (1999) Hum Mutat 13:417
Calderon (2007) J Inherit Metab Dis 30:818
Singh (2012) Clin Chim Acta 414C:191
Gort (2006) J Inherit Metab Dis 29:739
Ko (2010) Clin Chim Acta 411:1506
Boutron (2012) Mol Genet Metab 107:438
Reichardt (1991) Am J Hum Genet 49:860
Boutron (2012) Mol Genet Metab 107:438
Elsas (1995) Am J Hum Genet 56:630
Gort (2006) J Inherit Metab Dis 29:739
Tyfield (1999) Hum Mutat 13:417
Reichardt (1992) Genomics 12:596
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Calderon (2007) J Inherit Metab Dis 30:818
Elsas (1995) Am J Hum Genet 56:630
Elsas (1995) Am J Hum Genet 56:630
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Liu (2012) Mol Genet Metab 106:442
Boutron (2012) Mol Genet Metab 107:438
Yang (2001) Hum Mutat 19:82
Tyfield (1999) Hum Mutat 13:417
Kozak (1999) J Med Genet 36:576
O'Brien (2007) GALT LSDB entry Unpublished:.
Gathof (1995) Hum Genet 96:721
Tyfield (1999) Hum Mutat 13:417
Boutron (2012) Mol Genet Metab 107:438
O'Brien (2007) GALT LSDB entry Unpublished:.
Calderon (2007) J Inherit Metab Dis 30:818
Boutron (2012) Mol Genet Metab 107:438
Calderon (2007) J Inherit Metab Dis 30:818
Boutron (2012) Mol Genet Metab 107:438
Tyfield (1999) Hum Mutat 13:417
University of Bristol (2007) GALT LSDB entry Unpublished:.
Tang (2012) Hum Mutat 33:1107
Bosch (2005) Hum Mutat 25:502
Boutron (2012) Mol Genet Metab 107:438
Ashino (1995) Hum Mutat 6:36
Gort (2009) Med Clin (Barc) 132:709
Emory (2001) GALT LSDB entry Unpublished:
Boutron (2012) Mol Genet Metab 107:438
Tyfield (1999) Hum Mutat 13:417
Boutron (2012) Mol Genet Metab 107:438
Tyfield (1999) Hum Mutat 13:417
University of Bristol (2007) GALT LSDB entry Unpublished:.
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Bosch (2005) Hum Mutat 25:502
Source: LSDB
PubMed 10408771
PubMed 17876724
PubMed 23022339
PubMed 17041746
PubMed 20547145
PubMed 22944367
PubMed 1897530
PubMed 22944367
PubMed 7887416
PubMed 17041746
PubMed 10408771
PubMed 1373122
PubMed 10408771
PubMed 10408771
PubMed 10408771
PubMed 17876724
PubMed 7887416
PubMed 7887416
PubMed 10408771
PubMed 10408771
PubMed 22743281
PubMed 22944367
PubMed 11754113
PubMed 10408771
PubMed 10424825
Source: LSDB
PubMed 8522334
PubMed 10408771
PubMed 22944367
Source: LSDB
PubMed 17876724
PubMed 22944367
PubMed 17876724
PubMed 22944367
PubMed 10408771
Source: LSDB
PubMed 22461411
PubMed 15841485
PubMed 22944367
PubMed 7550229
PubMed 19375122
Source: LSDB
PubMed 22944367
PubMed 10408771
PubMed 22944367
PubMed 10408771
Source: LSDB
PubMed 10408771
PubMed 10408771
PubMed 15841485
www.ngpd.it
Elenco mutazioni NGPD
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM129683
CM095712
CM993939
CM1311590
CM074204
CM962546
CM990663
CM012761
CM065202
CCC‐CGC
CCC‐CTC
CGT‐TGT
CGT‐GGT
CGG‐CAG
CGG‐TGG
CGG‐CCG
CGG‐CAG
CCT‐GCT
Pro257Arg
Pro257Leu
Arg258Cys
Arg258Gly
Arg259Gln
Arg259Trp
Arg262Pro
Arg263Gln
Pro265Ala
770C>G
770C>T
772C>T
772C>G
776G>A
775C>T
785G>C
788G>A
793C>G
P257R
P257L
R258C
R258G
R259Q
R259W
R262P
R263Q
P265A
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM074209
CM102666
CM990664
CM074206
CM012762
CM074192
CM074193
CM990665
CM129442
CM920296
CM057546
CM990666
CM074202
CM950555
CM125426
CM990667
CM065208
CM104109
CM012763
CM129667
CM115483
CM950556
CM129668
CM990668
CM074217
CM990669
CM990670
CM129443
CM900102
CM012764
CM950557
CM012765
CM950558
CM990671
CM990672
CM970613
CM012766
CM074208
CM110770
CM990673
CM990674
CM990675
CM990676
GAG‐GGG
CGT‐TGT
CGT‐GGT
CGT‐CAT
CTA‐GTA
ATC‐AAC
ATG‐AAG
CTC‐GTC
AAG‐AGG
AAG‐AAT
TAT‐TGT
CTC‐CGC
CTC‐TTC
GAG‐AAG
GAG‐GTG
TTT‐TAT
CCC‐ACC
TCC‐CCC
TGG‐TGT
TGG‐TAG
TCA‐TAA
GAG‐AAG
TGG‐TAG
TGG‐TAG
TGG‐TGA
CAG‐CGG
CAG‐CAT
CAC‐CAA
CAC‐CAG
GCT‐CCT
GCT‐ACT
CAT‐TAT
TAC‐GAC
TAC‐CAC
CCT‐TCT
CCG‐CTG
CTC‐TTC
CTG‐CCG
CGC‐TGC
CGC‐CAC
TCT‐TTT
GCC‐GTC
CGG‐CAG
Glu271Gly
Arg272Cys
Arg272Gly
Arg272His
Leu275Val
Ile278Asn
Met279Lys
Leu282Val
Lys285Arg
Lys285Asn
Tyr286Cys
Leu289Arg
Leu289Phe
Glu291Lys
Glu291Val
Phe294Tyr
Pro295Thr
Ser297Pro
Trp300Cys
Trp300Term
Ser307Term
Glu308Lys
Trp313Term
Trp316Term
Trp316Term
Gln317Arg
Gln317His
His319Gln
His319Gln
Ala320Pro
Ala320Thr
His321Tyr
Tyr323Asp
Tyr323His
Pro324Ser
Pro325Leu
Leu326Phe
Leu327Pro
Arg328Cys
Arg328His
Ser329Phe
Ala330Val
Arg333Gln
812A>G
814C>T
814C>G
815G>A
823C>G
833T>A
836T>A
844C>G
854A>G
855G>T
857A>G
866T>G
865C>T
871G>A
872A>T
881T>A
883C>A
889T>C
900G>T
899G>A
920C>A
922G>A
938G>A
947G>A
948G>A
950A>G
951G>T
957C>A
957C>G
958G>C
958G>A
961C>T
967T>G
967T>C
970C>T
974C>T
976C>T
980T>C
982C>T
983G>A
986C>T
989C>T
998G>A
E271G
R272C
R272G
R272H
L275V
I278N
M279K
L282V
K285R
K285N
Y286C
L289R
L289F
E291K
E291V
F294Y
P295T
S297P
W300C
W300*
S307*
E308K
W313*
W316*
W316*
Q317R
Q317H
H319Q
H319Q
A320P
A320T
H321Y
Y323D
Y323H
P324S
P325L
L326F
L327P
R328C
R328H
S329F
A330V
R333Q
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Boutron (2012) Mol Genet Metab 107:438
Gort (2009) Med Clin (Barc) 132:709
Tyfield (1999) Hum Mutat 13:417
Ozgül (2013) J Hum Genet 58:675
Calderon (2007) GALT LSDB entry Unpublished:.
Shin (1996) Eur J Pediatr 155:393
Tyfield (1999) Hum Mutat 13:417
Emory (2001) GALT LSDB entry Unpublished:
Gort (2006) J Inherit Metab Dis 29:739
University of Bristol (2007) GALT LSDB entry Unpublished:.
Ounap (2010) J Inherit Metab Dis 33:175
Tyfield (1999) Hum Mutat 13:417
Boutron (2012) Mol Genet Metab 107:438
Emory (2001) GALT LSDB entry Unpublished:
Calderon (2007) J Inherit Metab Dis 30:818
Unpublished:.
Tyfield (1999) Hum Mutat 13:417
Singh (2012) Clin Chim Acta 414C:191
Leslie (1992) Genomics 14:474
Zaffanello (2005) Genet Med 7:211
Tyfield (1999) Hum Mutat 13:417
Calderon (2007) J Inherit Metab Dis 30:818
Elsas (1995) Am J Hum Genet 56:630
Tang (2012) Hum Mutat 33:1107
Seyrantepe (1999) Hum Mutat 13:339
Gort (2006) J Inherit Metab Dis 29:739
Milánkovics (2010) Wien Klin Wochenschr 122:95
Boutron (2012) Mol Genet Metab 107:438
Boutron (2012) Mol Genet Metab 107:438
Singh (2011) Indian J Pediatr 78:874
Elsas (1995) Am J Hum Genet 56:630
Boutron (2012) Mol Genet Metab 107:438
Sommer (1995) J Inherit Metab Dis 18:567
Calderon (2007) GALT LSDB entry Unpublished:.
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Singh (2012) Clin Chim Acta 414C:191
Flach (1990) Mol Biol Med 7:365
Emory (2001) GALT LSDB entry Unpublished:
Elsas (1995) Am J Hum Genet 56:630
Emory (2001) GALT LSDB entry Unpublished:
Elsas (1995) Am J Hum Genet 56:630
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Greber‐Platzer (1997) Hum Mutat 10:49
Emory (2001) GALT LSDB entry Unpublished:
Calderon (2007) GALT LSDB entry Unpublished:.
Forges (2011) Fertil Steril 95:290.e1
Tyfield (1999) Hum Mutat 13:417
Tyfield (1999) Hum Mutat 13:417
Sommer (1995) J Inherit Metab Dis 18:567
Tyfield (1999) Hum Mutat 13:417
PubMed 22944367
PubMed 19375122
PubMed 10408771
PubMed 23924834
Source: LSDB
PubMed 8741038
PubMed 10408771
Source: LSDB
PubMed 17041746
Source: LSDB
PubMed 20151200
PubMed 10408771
PubMed 22944367
Source: LSDB
PubMed 17876724
Source: LSDB
PubMed 10408771
PubMed 23022339
PubMed 1427861
PubMed 15775761
PubMed 10408771
PubMed 17876724
PubMed 7887416
PubMed 22461411
PubMed 10220154
PubMed 17041746
PubMed 20213376
PubMed 22944367
PubMed 22944367
PubMed 21188552
PubMed 7887416
PubMed 22944367
PubMed 8598637
Source: LSDB
PubMed 10408771
PubMed 10408771
PubMed 23022339
PubMed 2233247
Source: LSDB
PubMed 7887416
Source: LSDB
PubMed 7887416
PubMed 10408771
PubMed 10408771
PubMed 9222760
Source: LSDB
Source: LSDB
PubMed 20663501
PubMed 10408771
PubMed 10408771
PubMed 8598637
PubMed 10408771
www.ngpd.it
Elenco mutazioni NGPD
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
GALT
CM920297
CM129444
CM910170
CM921011
CM990677
CM129682
CM129681
CM129669
CM993450
CM950559
CM020709
CM990678
CM129670
CM012767
CM129680
CM960690
CM952097
CM045616
CM110682
CM970614
CM931191
CGG‐GGG
CGG‐CTG
CGG‐TGG
AAA‐AGA
ATG‐TTG
GTT‐ATT
TAC‐TGC
TAC‐TAA
GAA‐AAA
GAA‐TAA
CTT‐ATT
CAG‐AAG
CAG‐TAG
GCT‐GAT
CAG‐AAG
ACC‐GCC
CAG‐TAG
AGG‐TGG
GAG‐AAG
TAC‐TAA
CAG‐TAG
Arg333Gly
Arg333Leu
Arg333Trp
Lys334Arg
Met336Leu
Val337Ile
Tyr339Cys
Tyr339Term
Glu340Lys
Glu340Term
Leu342Ile
Gln344Lys
Gln344Term
Ala345Asp
Gln346Lys
Thr350Ala
Gln353Term
Arg359Trp
Glu363Lys
Tyr366Term
Gln370Term
997C>G
998G>T
997C>T
1001A>G
1006A>T
1009G>A
1016A>G
1017C>A
1018G>A
1018G>T
1024C>A
1030C>A
1030C>T
1034C>A
1036C>A
1048A>G
1057C>T
1075A>T
1087G>A
1098C>A
1108C>T
R333G
R333L
R333W
K334R
M336L
V337I
Y339C
Y339*
E340K
E340*
L342I
Q344K
Q344*
A345D
Q346K
T350A
Q353*
R359W
E363K
Y366*
Q370*
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
Galactosaemia
GALT
GALT
GALT
CM074196
CM990679
CM051928
ATC‐GTC
TGA‐CGA
TGA‐TGC
Ile378Val
Term380Arg
Term380Cys
1132A>G
1138T>C
1140A>C
I378V
*380R
*380C
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
CM065215
CM081634
CM057078
CM960691
CM044630
HM971738
CM065221
CM081630
CM950560
CM960692
CM016030
CM071788
CM950561
CM057085
CM057075
CM970616
CM081644
CM960693
CM081632
CM980823
CM082775
CM065220
CM980825
CM960694
CM057093
CM930289
CM044627
CM057081
AAG‐AGG
GGC‐AGC
AGC‐ATC
GTG‐CTG
GTG‐ATG
TGT‐TCT
GGT‐AGT
AGT‐AAT
ACA‐ATA
GGG‐GAG
CGA‐TGA
CGG‐CAG
CGG‐TGG
CTA‐CCA
CAG‐TAG
AAG‐TAG
GTG‐GCG
AAG‐AAC
ATG‐ACG
TCG‐TTG
TAC‐TGC
GAA‐AAA
ATC‐ACC
CGG‐TGG
GTA‐GCA
CCC‐TCC
ATG‐ACG
ATG‐GTG
Lys13Arg
Gly49Ser
Ser51Ile
Val54Leu
Val54Met
Cys55Ser
Gly74Ser
Ser81Asn
Thr82Ile
Gly85Glu
Arg86Term
Arg87Gln
Arg87Trp
Leu105Pro
Gln112Term
Lys113Term
Val117Ala
Lys118Asn
Met124Thr
Ser146Leu
Tyr147Cys
Glu150Lys
Ile158Thr
Arg159Trp
Val160Ala
Pro161Ser
Met162Thr
Met162Val
38A>G
145G>A
152G>T
160G>C
160G>A
164G>C
220G>A
242G>A
245C>T
254G>A
256C>T
260G>A
259C>T
314T>C
334C>T
337A>T
350T>C
354G>C
371T>C
437C>T
440A>G
448G>A
473T>C
475C>T
479T>C
481C>T
485T>C
484A>G
K13R
G49S
S51I
V54L
V54M
C55S
G74S
S81N
T82I
G85E
R86*
R87Q
R87W
L105P
Q112*
K113*
V117A
K118N
M124T
S146L
Y147C
E150K
I158T
R159W
V160A
P161S
M162T
M162V
PubMed 1427861
PubMed 23022339
PubMed 1897530
PubMed 1427861
PubMed 10408771
PubMed 22944367
PubMed 22944367
PubMed 22944367
PubMed 10649501
PubMed 8522334
PubMed 11919338
PubMed 10408771
PubMed 22944367
PubMed 11754113
PubMed 22944367
PubMed 8741038
PubMed 8522334
PubMed 15633893
PubMed 21150919
PubMed 9222760
PubMed 8499924
Galactosaemia
Galactosaemia
Galactosaemia
Leslie (1992) Genomics 14:474
Singh (2012) Clin Chim Acta 414C:191
Reichardt (1991) Am J Hum Genet 49:860
Leslie (1992) Genomics 14:474
Tyfield (1999) Hum Mutat 13:417
Boutron (2012) Mol Genet Metab 107:438
Boutron (2012) Mol Genet Metab 107:438
Boutron (2012) Mol Genet Metab 107:438
Kozak (1999) Hum Mutat 15:206
Gathof (1995) Hum Genet 96:721
Item (2002) Pediatr Res 51:511
Tyfield (1999) Hum Mutat 13:417
Boutron (2012) Mol Genet Metab 107:438
Yang (2002) Hum Mutat 19:82
Boutron (2012) Mol Genet Metab 107:438
Shin (1996) Eur J Pediatr 155:393
Gathof (1995) Hum Genet 96:721
Shin (2004) Bratisl Lek Listy 105:315
Lee (2011) J Hum Genet 56:94
Greber‐Platzer (1997) Hum Mutat 10:49
Reichardt (1993) Hum Mol Genet 2:325
University of Bristol (2007) GALT LSDB entry Unpublished:.
Tyfield (1999) Hum Mutat 13:417
Bosch (2005) Hum Mutat 25:502
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Rozenberg (2006) Blood Cells Mol Dis 37:204
Hruska (2008) Hum Mutat 29:567
Beutler (2005) Blood Cells Mol Dis 35:355
Kim (1996) Hum Mutat 7:214
Alfonso (2004) Blood Cells Mol Dis 32:218
Church (2000) Hum Genet 107:535
Rozenberg (2006) Blood Cells Mol Dis 37:204
Hruska (2008) Hum Mutat 29:567
Beutler (1995) Blood Cells Mol Dis 21:20
Kim (1996) Hum Mutat 7:214
Alfonso (2001) Blood Cells Mol Dis 27:882
Erdos (2007) Blood Cells Mol Dis 39:119
Beutler (1995) Blood Cells Mol Dis 21:20
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (2005) Blood Cells Mol Dis 35:355
Grace (1997) J Clin Invest 99:2530
Hruska (2008) Hum Mutat 29:567
Beutler (1996) Proc Assoc Am Physicians 108:179
Hruska (2008) Hum Mutat 29:567
Beutler (1998) Blood Cells Mol Dis 24:2
Santamaria (2008) Hum Mutat 29:E58
Rozenberg (2006) Blood Cells Mol Dis 37:204
Germain (1998) Am J Hum Genet 63:415
Beutler (1996) Hum Mutat 8:207
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (1993) Genomics 15:203
Alfonso (2004) Blood Cells Mol Dis 32:218
Beutler (2005) Blood Cells Mol Dis 35:355
PubMed 17059888
PubMed 18338393
PubMed 16185900
PubMed 8829654
PubMed 14757438
Source: Online submission
PubMed 17059888
PubMed 18338393
PubMed 7655857
PubMed 8829654
PubMed 11783951
PubMed 17395504
PubMed 7655857
PubMed 16185900
PubMed 16185900
PubMed 9153297
PubMed 18338393
PubMed 8774051
PubMed 18338393
PubMed 9516376
PubMed 18429048
PubMed 17059888
PubMed 9683600
PubMed 8889578
PubMed 16185900
PubMed 8432537
PubMed 14757438
PubMed 16185900
Source: LSDB
PubMed 10408771
PubMed 15841485
www.ngpd.it
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
Elenco mutazioni NGPD
CM057089
CM142133
CM139942
CM020710
CM081639
CM057074
CM980827
CM142244
CM022012
CM980828
CM980829
CM980831
CM950562
CM057076
CM940805
CM950563
CM970617
CM081641
CM940806
CM057091
CM119891
CM980832
CM960695
CM970618
CM980833
CM092866
CM970619
CM990680
CM992893
CM057077
CM057087
CM940807
CM992894
CM081637
CM065217
CM930290
HM971754
CM134808
CM900103
CM940808
CM065219
CM022013
CM081640
CM142245
CM077546
CM1212993
CM980834
CM081643
CM081642
CM081631
CM057082
CM134809
CM134821
GAC‐GTC
CGC‐CAC
TAC‐TAA
GCA‐GAA
GAA‐GCA
AAG‐AAT
CCC‐CTC
CCC‐TCC
CCC‐ACC
ATT‐AGT
CGA‐TGA
CGT‐CCT
TCA‐TGA
CTC‐TTC
GCC‐GAC
CCC‐TCC
TGG‐TAG
ACA‐CCA
CCC‐ACC
CTC‐TTC
AAT‐ATT
AAT‐AAG
AAT‐AGT
GGA‐GTA
GTG‐GGG
GGG‐TGG
GGG‐GAG
GGG‐TGG
TCA‐CCA
CTC‐TTC
CTC‐CCC
GGA‐AGA
GGA‐GAA
TGG‐CGG
GCC‐GTC
TAC‐CAC
TTT‐TGT
TTT‐TTG
TTC‐TAC
TTC‐GTC
TAT‐TGT
ACA‐AGA
GAA‐GAC
GAG‐AAG
CCT‐ACT
TCT‐TTT
TCT‐CCT
GGG‐GTG
GGA‐GTA
TAC‐CAC
CCC‐CAC
CCC‐ACC
TTC‐TCC
Asp166Val
Arg170His
Tyr172Term
Ala175Glu
Glu191Ala
Lys196Asn
Pro198Leu
Pro198Ser
Pro198Thr
Ile200Ser
Arg202Term
Arg209Pro
Ser212Term
Leu213Phe
Ala215Asp
Pro217Ser
Trp218Term
Thr219Pro
Pro221Thr
Leu224Phe
Asn227Ile
Asn227Lys
Asn227Ser
Gly228Val
Val230Gly
Gly232Trp
Gly234Glu
Gly234Trp
Ser235Pro
Leu236Phe
Leu236Pro
Gly241Arg
Gly241Glu
Trp248Arg
Ala249Val
Tyr251His
Phe252Cys
Phe252Leu
Phe255Tyr
Phe255Val
Tyr259Cys
Thr270Arg
Glu272Asp
Glu274Lys
Pro275Thr
Ser276Phe
Ser276Pro
Gly278Val
Gly282Val
Tyr283His
Pro284His
Pro284Thr
Phe285Ser
497A>T
509G>A
516C>A
524C>A
572A>C
588G>T
593C>T
592C>T
592C>A
599T>G
604C>T
626G>C
635C>G
637C>T
644C>A
649C>T
653G>A
655A>C
661C>A
670C>T
680A>T
681T>G
680A>G
683G>T
689T>G
694G>T
701G>A
700G>T
703T>C
706C>T
707T>C
721G>A
722G>A
742T>C
746C>T
751T>C
755T>G
756T>G
764T>A
763T>G
776A>G
809C>G
816A>C
820G>A
823C>A
827C>T
826T>C
833G>T
845G>T
847T>C
851C>A
850C>A
854T>C
D166V
R170H
Y172*
A175E
E191A
K196N
P198L
P198S
P198T
I200S
R202*
R209P
S212*
L213F
A215D
P217S
W218*
T219P
P221T
L224F
N227I
N227K
N227S
G228V
V230G
G232W
G234E
G234W
S235P
L236F
L236P
G241R
G241E
W248R
A249V
Y251H
F252C
F252L
F255Y
F255V
Y259C
T270R
E272D
E274K
P275T
S276F
S276P
G278V
G282V
Y283H
P284H
P284T
F285S
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Beutler (2005) Blood Cells Mol Dis 35:355
Liao (2014) Clin Chim Acta 431C:80
Beaujot (2013) Prenat Diagn 33:1004
Orvisky (2002) Hum Mutat 19:458
Hruska (2008) Hum Mutat 29:567
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (1998) Blood Cells Mol Dis 24:2
Malini (2014) Eur J Hum Genet 22:511
Filocamo (2002) Hum Mutat 20:234
Beutler (1998) Blood Cells Mol Dis 24:2
Beutler (1998) Blood Cells Mol Dis 24:2
Germain (1998) Am J Hum Genet 63:415
Beutler (1995) Blood Cells Mol Dis 21:20
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (1994) Mol Med 1:82
Choy (1995) Hum Mutat 5:345
Grace (1997) J Clin Invest 99:2530
Hruska (2008) Hum Mutat 29:567
Beutler (1994) Mol Med 1:82
Beutler (2005) Blood Cells Mol Dis 35:355
Mechtler (2011) Lancet 379:335
Germain (1998) Am J Hum Genet 63:415
Kim (1996) Hum Mutat 7:214
Ida (1997) J Inherit Metab Dis 20:67
Choy (1997) Hum Mutat 11:411
Mitsui (2009) Arch Neurol 66:571
Grace (1997) J Clin Invest 99:2530
Sarria (1999) Hum Mutat 14:88
Hodanova (1999) Blood Cells Mol Dis 25:287
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (1994) Mol Med 1:82
Hodanova (1999) Blood Cells Mol Dis 25:287
Hruska (2008) Hum Mutat 29:567
Rozenberg (2006) Blood Cells Mol Dis 37:204
Beutler (1993) Genomics 15:203
Cooper (2001) Hum Genet 108:82
Siebert (2013) JIMD Rep 9:7
Beutler (1990) Ann Hum Genet 54:149
Horowitz (1994) Hum Mutat 3:1
Rozenberg (2006) Blood Cells Mol Dis 37:204
Filocamo (2002) Hum Mutat 20:234
Hruska (2008) Hum Mutat 29:567
Malini (2014) Eur J Hum Genet 22:511
Bukina (2007) Biomed Khim 53:593
Verma (2012) Indian Pediatr 49:799
Germain (1998) Am J Hum Genet 63:415
Hruska (2008) Hum Mutat 29:567
Hruska (2008) Hum Mutat 29:567
Hruska (2008) Hum Mutat 29:567
Beutler (2005) Blood Cells Mol Dis 35:355
Siebert (2013) JIMD Rep 9:7
Al‐Jasmi (2013) JIMD Rep 10:1
PubMed 16185900
PubMed 24513544
PubMed 23749476
PubMed 11933202
PubMed 18338393
PubMed 16185900
PubMed 9516376
PubMed 24022302
PubMed 12204005
PubMed 9516376
PubMed 9516376
PubMed 9683600
PubMed 7655857
PubMed 16185900
PubMed 8790604
PubMed 7627192
PubMed 9153297
PubMed 18338393
PubMed 8790604
PubMed 16185900
PubMed 22133539
PubMed 9683600
PubMed 8829654
PubMed 9061570
PubMed 10206680
PubMed 19433656
PubMed 9153297
PubMed 10447266
PubMed 10744424
PubMed 16185900
PubMed 16185900
PubMed 8790604
PubMed 10744424
PubMed 18338393
PubMed 17059888
PubMed 8432537
Source: Online submission
PubMed 23430543
PubMed 1974409
PubMed 8118460
PubMed 17059888
PubMed 12204005
PubMed 18338393
PubMed 24022302
PubMed 18078074
PubMed 22791670
PubMed 9683600
PubMed 18338393
PubMed 18338393
PubMed 18338393
PubMed 16185900
PubMed 23430543
PubMed 23430803
www.ngpd.it
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
Elenco mutazioni NGPD
CM077543
CM141197
CM940809
CM142249
CM980836
CM057095
CM950564
CM970620
CM121739
CM081635
CM940810
CM077544
CM920298
CM980837
CM057098
CM074886
CM142246
CM960696
CM950565
CM950566
CM057094
CM077547
CM920299
CM980838
CM014190
CM081647
CM044629
CM980839
CM057097
CM081638
CM057092
CM970621
CM077548
CM980840
CM057090
HM971755
CM093532
CM043998
CM920300
CM940811
CM022014
CM1312621
CM044628
CM074884
CM142247
CM980841
CM970622
HM971759
CM960697
CM057073
CM040422
CM970623
BM1387467
CTG‐CAG
GGC‐GCC
CGA‐CAA
GGT‐CGT
GGT‐GAT
CCT‐GCT
CCT‐CGT
AGT‐AAT
CGC‐TGC
CTC‐CCC
CGC‐TGC
CTG‐CCG
CCC‐CTC
AAA‐ATA
GTT‐CTT
TGG‐CGG
TGG‐TCG
TAC‐CAC
GAC‐CAC
GCT‐GAT
CCA‐GCA
CCA‐TCA
ACC‐ATC
CTA‐CCA
GGG‐TGG
TTC‐TCC
CTC‐CCC
GCC‐ACC
TGT‐TAT
TGG‐GGG
GAG‐AAG
GTG‐CTG
GTG‐ATG
CGG‐GGG
CGG‐TGG
GGC‐GAC
TGG‐TGC
TGG‐TAG
CGA‐CAA
CGA‐TGA
ATG‐ATA
TAC‐CAC
AGC‐CGC
AGC‐AAC
AGC‐AGA
AGC‐AAC
AGC‐GGC
AGC‐ACC
ACG‐ATG
AAC‐AAA
CTC‐GTC
GTG‐TTG
GGC‐TGC
Leu288Gln
Gly289Ala
Arg296Gln
Gly304Arg
Gly304Asp
Pro305Ala
Pro305Arg
Ser310Asn
Arg316Cys
Leu318Pro
Arg324Cys
Leu327Pro
Pro328Leu
Lys342Ile
Val344Leu
Trp351Arg
Trp351Ser
Tyr352His
Asp354His
Ala357Asp
Pro358Ala
Pro358Ser
Thr362Ile
Leu363Pro
Gly364Trp
Phe370Ser
Leu375Pro
Ala380Thr
Cys381Tyr
Trp387Gly
Glu388Lys
Val391Leu
Val391Met
Arg392Gly
Arg392Trp
Gly394Asp
Trp396Cys
Trp396Term
Arg398Gln
Arg398Term
Met400Ile
Tyr402His
Ser403Arg
Ser403Asn
Ser405Arg
Ser405Asn
Ser405Gly
Ser405Thr
Thr408Met
Asn409Lys
Leu410Val
Val414Leu
Gly416Cys
863T>A
866G>C
887G>A
910G>C
911G>A
913C>G
914C>G
929G>A
946C>T
953T>C
970C>T
980T>C
983C>T
1025A>T
1030G>C
1051T>C
1052G>C
1054T>C
1060G>C
1070C>A
1072C>G
1072C>T
1085C>T
1088T>C
1090G>T
1109T>C
1124T>C
1138G>A
1142G>A
1159T>G
1162G>A
1171G>C
1171G>A
1174C>G
1174C>T
1181G>A
1188G>C
1187G>A
1193G>A
1192C>T
1200G>A
1204T>C
1207A>C
1208G>A
1215C>A
1214G>A
1213A>G
1214G>C
1223C>T
1227C>A
1228C>G
1240G>T
1246G>T
L288Q
G289A
R296Q
G304R
G304D
P305A
P305R
S310N
R316C
L318P
R324C
L327P
P328L
K342I
V344L
W351R
W351S
Y352H
D354H
A357D
P358A
P358S
T362I
L363P
G364W
F370S
L375P
A380T
C381Y
W387G
E388K
V391L
V391M
R392G
R392W
G394D
W396C
W396*
R398Q
R398*
M400I
Y402H
S403R
S403N
S405R
S405N
S405G
S405T
T408M
N409K
L410V
V414L
G416C
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Bukina (2007) Biomed Khim 53:593
Ankleshwaria (2014) J Hum Genet epub:epub
Beutler (1994) Mol Med 1:82
Malini (2014) Eur J Hum Genet 22:511
Beutler (1998) Blood Cells Mol Dis 24:2
Beutler (2005) Blood Cells Mol Dis 35:355
Walley (1995) Br J Haematol 91:330
Grace (1997) J Clin Invest 99:2530
Lee (2012) Korean J Pediatr 55:48
Hruska (2008) Hum Mutat 29:567
Beutler (1994) Mol Med 1:82
Bukina (2007) Biomed Khim 53:593
He (1992) Hum Mutat 1:423
Germain (1998) Am J Hum Genet 63:415
Beutler (2005) Blood Cells Mol Dis 35:355
Alfonso (2007) J Hum Genet 52:391
Malini (2014) Eur J Hum Genet 22:511
Cormand (1996) Hum Mutat 7:272
Walley (1995) Br J Haematol 91:330
Walley (1995) Br J Haematol 91:330
Beutler (2005) Blood Cells Mol Dis 35:355
Bukina (2007) Biomed Khim 53:593
He (1992) Hum Mutat 1:423
Germain (1998) Am J Hum Genet 63:415
Torralba (2001) Blood Cells Mol Dis 27:489
Hruska (2008) Hum Mutat 29:567
Alfonso (2004) Blood Cells Mol Dis 32:218
Beutler (1998) Blood Cells Mol Dis 24:2
Beutler (2005) Blood Cells Mol Dis 35:355
Hruska (2008) Hum Mutat 29:567
Beutler (2005) Blood Cells Mol Dis 35:355
Grace (1997) J Clin Invest 99:2530
Bukina (2007) Biomed Khim 53:593
Parenti (1998) Clin Genet 53:281
Beutler (2005) Blood Cells Mol Dis 35:355
Cooper (2001) Hum Genet 108:82
Arndt (2009) Blood Cells Mol Dis 43:129
Durr (2004) Internist (Berl) 45:455
Kawame (1992) Hum Genet 90:294
Beutler (1994) Hum Genet 93:209
Filocamo (2002) Hum Mutat 20:234
Tammachote (2013) J Hum Genet 58:594
Alfonso (2004) Blood Cells Mol Dis 32:218
Alfonso (2007) J Hum Genet 52:391
Malini (2014) Eur J Hum Genet 22:511
Beutler (1998) Blood Cells Mol Dis 24:2
Ida (1997) J Inherit Metab Dis 20:67
Cooper (2001) Hum Genet 108:83
Beutler (1996) Proc Assoc Am Physicians 108:179
Beutler (2005) Blood Cells Mol Dis 35:355
Shamzeddine (2004) Am J Med Genet 125A:257
Cormand (1997) Am J Med Genet 70:437
Zhou (2013) Am J Hematol epub:epub
PubMed 18078074
PubMed 24522292
PubMed 8790604
PubMed 24022302
PubMed 9516376
PubMed 16185900
PubMed 8547070
PubMed 9153297
PubMed 22375149
PubMed 18338393
PubMed 8790604
PubMed 18078074
PubMed 1301953
PubMed 9683600
PubMed 16185900
PubMed 17427031
PubMed 24022302
PubMed 8829663
PubMed 8547070
PubMed 8547070
PubMed 16185900
PubMed 18078074
PubMed 1301953
PubMed 9683600
PubMed 11259172
PubMed 18338393
PubMed 14757438
PubMed 9516376
PubMed 16185900
PubMed 18338393
PubMed 16185900
PubMed 9153297
PubMed 18078074
PubMed 9650766
PubMed 16185900
Source: Online submission
PubMed 19394250
PubMed 15151139
PubMed 1487244
PubMed 8112750
PubMed 12204005
PubMed 23719189
PubMed 14757438
PubMed 17427031
PubMed 24022302
PubMed 9516376
PubMed 9061570
Source: Online submission
PubMed 8774051
PubMed 16185900
PubMed 14994233
PubMed 9182788
PubMed 23828321
www.ngpd.it
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
Elenco mutazioni NGPD
CM940812
CM134810
CM940813
CM057096
CM930291
CM940814
CM054757
CM082774
CM142248
CM081645
CM077545
CM960698
CM057083
CM057079
CM980845
CM081646
CM890054
CM960699
CM057099
CM940815
CM134811
CM970624
CM093533
CM057088
CM940816
CM980846
CM970625
CM057080
CM960701
CM940818
CM920301
CM085444
CM141196
CM970626
CM081629
CM940819
CM980848
CM119326
CM022015
CM900107
CM057086
CM972851
CM057072
CM900108
CM074885
CM057084
CM930292
CM081636
CM065216
CM920302
CM930293
CM1312622
CM980822
GGC‐AGC
TGG‐TGC
TGG‐GGG
TGG‐TAG
GAC‐GCC
GAC‐AAC
GAC‐CAC
GAC‐TAC
TGG‐TGC
TGG‐TAG
GCC‐GAC
CCC‐CTC
GAA‐TAA
GGA‐AGA
TGG‐AGG
TGG‐TTG
GTG‐TTG
AAC‐ACC
TTT‐TCT
GAC‐AAC
GAC‐CAC
ATC‐ACC
GAC‐GTC
GAC‐GGC
GAC‐GTC
TTT‐ATT
AAA‐CAA
CAG‐CGG
CAG‐TAG
TAC‐TGC
AAG‐GAG
TTC‐GTC
ATT‐AGT
AGA‐GGA
AGA‐AGT
CTG‐CGG
GCA‐CCA
ATG‐CTG
CAT‐CGT
GCT‐CCT
CTA‐CCA
AAC‐AAG
AAC‐AGC
CGC‐TGC
CGC‐CAC
CGC‐CCC
GGC‐AGC
CTG‐CCG
ATT‐ACT
CGC‐TGC
CGC‐CAC
TGA‐CGA
TGG‐TGA
Gly416Ser
Trp417Cys
Trp417Gly
Trp417Term
Asp419Ala
Asp419Asn
Asp419His
Asp419Tyr
Trp420Cys
Trp420Term
Ala423Asp
Pro426Leu
Glu427Term
Gly429Arg
Trp432Arg
Trp432Leu
Val433Leu
Asn435Thr
Phe436Ser
Asp438Asn
Asp438His
Ile441Thr
Asp444Val
Asp448Gly
Asp448Val
Phe450Ile
Lys452Gln
Gln453Arg
Gln453Term
Tyr457Cys
Lys464Glu
Phe465Val
Ile466Ser
Arg472Gly
Arg472Ser
Leu483Arg
Ala485Pro
Met489Leu
His490Arg
Ala495Pro
Leu500Pro
Asn501Lys
Asn501Ser
Arg502Cys
Arg502His
Arg502Pro
Gly517Ser
Leu519Pro
Ile528Thr
Arg535Cys
Arg535His
Term537Arg
Trp36Term
1246G>A
1251G>C
1249T>G
1250G>A
1256A>C
1255G>A
1255G>C
1255G>T
1260G>C
1259G>A
1268C>A
1277C>T
1279G>T
1285G>A
1294T>A
1295G>T
1297G>T
1304A>C
1307T>C
1312G>A
1312G>C
1322T>C
1331A>T
1343A>G
1343A>T
1348T>A
1354A>C
1358A>G
1357C>T
1370A>G
1390A>G
1393T>G
1397T>G
1414A>G
1416A>T
1448T>G
1453G>C
1465A>C
1469A>G
1483G>C
1499T>C
1503C>G
1502A>G
1504C>T
1505G>A
1505G>C
1549G>A
1556T>C
1583T>C
1603C>T
1604G>A
1609T>C
108G>A
G416S
W417C
W417G
W417*
D419A
D419N
D419H
D419Y
W420C
W420*
A423D
P426L
E427*
G429R
W432R
W432L
V433L
N435T
F436S
D438N
D438H
I441T
D444V
D448G
D448V
F450I
K452Q
Q453R
Q453*
Y457C
K464E
F465V
I466S
R472G
R472S
L483R
A485P
M489L
H490R
A495P
L500P
N501K
N501S
R502C
R502H
R502P
G517S
L519P
I528T
R535C
R535H
*537R
W36*
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease 1
Laubscher (1994) Hum Mutat 3:411
Siebert (2013) JIMD Rep 9:7
Beutler (1994) Mol Med 1:82
Beutler (2005) Blood Cells Mol Dis 35:355
Walley (1993) Hum Mol Genet 2:1737
Beutler (1994) Mol Med 1:82
Pomponio (2005) Mol Genet Metab 86:466
Santamaria (2008) Hum Mutat 29:E58
Malini (2014) Eur J Hum Genet 22:511
Bukina (2007) Biomed Khim 53:593
Bukina (2007) Biomed Khim 53:593
Morar (1996) Clin Genet 50:78
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (1998) Blood Cells Mol Dis 24:2
Hruska (2008) Hum Mutat 29:567
Theophilus (1989) Nucleic Acids Res 17:7707
Amaral (1996) Hum Mutat 8:280
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (1994) Hum Genet 93:209
Siebert (2013) JIMD Rep 9:7
Cormand (1997) Am J Med Genet 70:437
Arndt (2009) Blood Cells Mol Dis 43:129
Beutler (2005) Blood Cells Mol Dis 35:355
Horowitz (1994) Hum Mutat 3:1
Beutler (1998) Blood Cells Mol Dis 24:2
Ida (1997) J Inherit Metab Dis 20:67
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (1996) Proc Assoc Am Physicians 108:179
Tuteja (1994) Hum Genet 94:314
Kawame (1992) Hum Genet 90:294
Kaya (2008) Blood Cells Mol Dis 41:200
Ankleshwaria (2014) J Hum Genet epub:epub
Ida (1997) J Inherit Metab Dis 20:67
Hruska (2008) Hum Mutat 29:567
Uchiyama (1994) Hum Mol Genet 3:1183
Germain (1998) Am J Hum Genet 63:415
El‐Morsy (2011) World J Pediatr 7:326
Filocamo (2002) Hum Mutat 20:234
Latham (1990) Am J Hum Genet 47:79
Beutler (2005) Blood Cells Mol Dis 35:355
Hatton (1997) Arch Dis Child 77:17
Beutler (2005) Blood Cells Mol Dis 35:355
Hong (1990) DNA Cell Biol 9:233
Alfonso (2007) J Hum Genet 52:391
Beutler (2005) Blood Cells Mol Dis 35:355
Beutler (1993) Genomics 15:203
Hruska (2008) Hum Mutat 29:567
Rozenberg (2006) Blood Cells Mol Dis 37:204
Kawame (1992) Hum Genet 90:294
Beutler (1993) Genomics 15:203
Tammachote (2013) J Hum Genet 58:594
Cormand (1998) Hum Mutat 11:295
PubMed 8081401
PubMed 23430543
PubMed 8790604
PubMed 16185900
PubMed 8268935
PubMed 8790604
PubMed 16185907
PubMed 18429048
PubMed 24022302
PubMed 18078074
PubMed 18078074
PubMed 8937765
PubMed 16185900
PubMed 16185900
PubMed 9516376
PubMed 18338393
PubMed 2508065
PubMed 8889591
PubMed 16185900
PubMed 8112750
PubMed 23430543
PubMed 9182788
PubMed 19394250
PubMed 16185900
PubMed 8118460
PubMed 9516376
PubMed 9061570
PubMed 16185900
PubMed 8774051
PubMed 8076951
PubMed 1487244
PubMed 18586535
PubMed 24522292
PubMed 9061570
PubMed 18338393
PubMed 7981693
PubMed 9683600
PubMed 21633851
PubMed 12204005
PubMed 2349952
PubMed 16185900
PubMed 9279145
PubMed 16185900
PubMed 1972019
PubMed 17427031
PubMed 16185900
PubMed 8432537
PubMed 18338393
PubMed 17059888
PubMed 1487244
PubMed 8432537
PubMed 23719189
PubMed 9554746
www.ngpd.it
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
Elenco mutazioni NGPD
CM141434
CM050263
CM970615
CM001161
CM020940
CM005404
CM980824
CM001162
CM050264
CM880035
CM122355
CM001163
CM980826
CM001164
CM123800
CM910171
CM020711
CM980830
CM001165
CM050265
CM990681
CM125235
CM123769
CM980835
CM123770
CM080379
CM082770
CM125236
CM910174
CM910175
CM076208
CM910176
BM1275055
CM025357
CM020714
HM971756
CM910177
CM880036
CM1212761
CM980843
CM065218
CM005403
CM065222
CM001169
CM990683
CM112492
CM980847
CM940817
CM050266
CM123771
HM971757
CM110322
CM983509
TGT‐TGG
GAC‐AAC
TTC‐GTC
GCT‐ACT
CTT‐CGT
TTC‐GTC
GGA‐GAA
AAC‐GAC
ATC‐AGC
CGG‐CAG
ATG‐AAG
ACC‐ATC
ACC‐CCC
TAT‐TAG
GAC‐AAC
GAT‐CAT
CAC‐CCC
CAG‐TAG
CGT‐TGT
GTG‐GAG
TAC‐TGC
TTC‐TTG
GGC‐GTC
CGA‐TGA
CGT‐GGT
CTG‐TTG
CTG‐GTG
ATT‐AGT
GCT‐GTT
TGG‐TGT
CTA‐CAA
GAG‐AAG
GCC‐GTC
TGT‐CGT
CAG‐TAG
TCC‐TTC
AGC‐ACC
AAC‐AGC
CTG‐CGG
CCC‐CTC
CGT‐TGT
CGT‐CCT
GTC‐ATC
GAC‐TAC
CCC‐CTC
ATT‐ACT
TAC‐CAC
TTC‐GTC
GGC‐GAC
GTG‐GAG
GTG‐ATG
CGC‐AGC
GAG‐AAG
Cys62Trp
Asp63Asn
Phe76Val
Ala129Thr
Leu144Arg
Phe148Val
Gly152Glu
Asn156Asp
Ile158Ser
Arg159Gln
Met162Lys
Thr173Ile
Thr173Pro
Tyr174Term
Asp176Asn
Asp179His
His201Pro
Gln208Term
Arg209Cys
Val230Glu
Tyr244Cys
Phe266Leu
Gly289Val
Arg296Term
Arg301Gly
Leu335Leu
Leu335Val
Ile347Ser
Ala348Val
Trp351Cys
Leu363Gln
Glu365Lys
Ala380Val
Cys381Arg
Gln389Term
Ser395Phe
Ser403Thr
Asn409Ser
Leu424Arg
Pro430Leu
Arg434Cys
Arg434Pro
Val437Ile
Asp438Tyr
Pro440Leu
Ile442Thr
Tyr451His
Phe456Val
Gly460Asp
Val486Glu
Val499Met
Arg502Ser
Glu80Lys
186T>G
187G>A
226T>G
385G>A
431T>G
442T>G
455G>A
466A>G
473T>G
476G>A
485T>A
518C>T
517A>C
522T>G
526G>A
535G>C
602A>C
622C>T
625C>T
689T>A
731A>G
798C>G
866G>T
886C>T
901C>G
1003C>T
1003C>G
1040T>G
1043C>T
1053G>T
1088T>A
1093G>A
1139C>T
1141T>C
1165C>T
1184C>T
1208G>C
1226A>G
1271T>G
1289C>T
1300C>T
1301G>C
1309G>A
1312G>T
1319C>T
1325T>C
1351T>C
1366T>G
1379G>A
1457T>A
1495G>A
1504C>A
238G>A
C62W
D63N
F76V
A129T
L144R
F148V
G152E
N156D
I158S
R159Q
M162K
T173I
T173P
Y174*
D176N
D179H
H201P
Q208*
R209C
V230E
Y244C
F266L
G289V
R296*
R301G
L335L
L335V
I347S
A348V
W351C
L363Q
E365K
A380V
C381R
Q389*
S395F
S403T
N409S
L424R
P430L
R434C
R434P
V437I
D438Y
P440L
I442T
Y451H
F456V
G460D
V486E
V499M
R502S
E80K
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 1
Gaucher disease 2
Jack (2014) Gene 538:84
Miocic (2005) Hum Mutat 25:100
Choy (1997) Am J Med Genet 71:172
Koprivica (2000) Am J Hum Genet 66:1777
Choy (2002) Clin Genet 61:229
Amaral (2000) Eur J Hum Genet 8:95
Cormand (1998) Hum Mutat 11:295
Koprivica (2000) Am J Hum Genet 66:1777
Miocic (2005) Hum Mutat 25:100
Graves (1988) DNA Cell Biol 7:521
Giraldo (2012) Orphanet J Rare Dis 7:
Koprivica (2000) Am J Hum Genet 66:1777
Cormand (1998) Hum Mutat 11:295
Koprivica (2000) Am J Hum Genet 66:1777
Lo (2012) Blood 119:4731
Eyal (1991) Hum Genet 87:328
Orvisky (2002) Hum Mutat 19:458
Cormand (1998) Hum Mutat 11:295
Koprivica (2000) Am J Hum Genet 66:1777
Miocic (2005) Hum Mutat 25:100
Choy (1999) Am J Med Genet 84:484
Machaczka (2012) Ups J Med Sci 117:28
Duran (2012) Mol Genet Metab 106:495
Cormand (1998) Hum Mutat 11:295
Duran (2012) Mol Genet Metab epub:epub
Emre (2008) Mol Genet Metab 93:S20
Emre (2008) Eur J Med Genet 51:315
Machaczka (2012) Ups J Med Sci 117:28
Latham (1991) DNA Cell Biol 10:15
Latham (1991) DNA Cell Biol 10:15
91:390
Eyal (1991) Hum Genet 87:328
Duran (2012) Mol Genet Metab epub:epub
Choy (2002) Clin Genet 61:229
Orvisky (2002) Hum Mutat 19:458
Cooper (2001) Hum Genet 108:82
Latham (1991) DNA Cell Biol 10:15
Tsuji (1988) Proc Natl Acad Sci U S A 85:2349
Karaca (2012) J Pediatr Endocrinol Metab 25:957
Cormand (1998) Hum Mutat 11:295
Rozenberg (2006) Blood Cells Mol Dis 37:204
Amaral (2000) Eur J Hum Genet 8:95
Rozenberg (2006) Blood Cells Mol Dis 37:204
Koprivica (2000) Am J Hum Genet 66:1777
Wasserstein (1999) Am J Med Genet 84:334
Lavaut (2011) Blood Cells Mol Dis 46:327
Cormand (1998) Hum Mutat 11:295
Choy (1994) Hum Mol Genet 3:821
Miocic (2005) Hum Mutat 25:100
Duran (2012) Mol Genet Metab 106:495
Cooper (2001) Hum Genet 108:82
Jurecka (2011) Blood Cells Mol Dis 46:85
Sinclair (1998) Blood Cells Mol Dis 24:420
PubMed 24434810
PubMed 15605411
PubMed 9217217
PubMed 10796875
PubMed 12000368
PubMed 10757640
PubMed 9554746
PubMed 10796875
PubMed 15605411
PubMed 3180993
PubMed 22429443
PubMed 10796875
PubMed 9554746
PubMed 10796875
PubMed 22493294
PubMed 1864608
PubMed 11933202
PubMed 9554746
PubMed 10796875
PubMed 15605411
PubMed 10360404
PubMed 22247978
PubMed 22658918
PubMed 9554746
PubMed 22658918
PubMed: No PubMed ID
PubMed 18586596
PubMed 22247978
PubMed 1899336
PubMed 1899336
PubMed 17560820
PubMed 1864608
PubMed 22658918
PubMed 12000368
PubMed 11933202
Source: Online submission
PubMed 1899336
PubMed 3353383
PubMed 23426826
PubMed 9554746
PubMed 17059888
PubMed 10757640
PubMed 17059888
PubMed 10796875
PubMed 10340647
PubMed 21411350
PubMed 9554746
PubMed 7915932
PubMed 15605411
PubMed 22658918
Source: Online submission
PubMed 20729110
PubMed 9851895
www.ngpd.it
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
GBA
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
Elenco mutazioni NGPD
CM110320
CM052240
CM983510
CM000161
CM910172
CM041347
CM001166
CM000162
CM020712
CM110318
CM990682
CM020713
CM000163
CM000164
CM053270
HM971737
CM000165
CM000166
CM993703
CM900104
CM900105
CM052241
CM052242
CM052243
CM052244
CM980842
CM980844
CM993704
CM900106
CM890055
CM052245
CM870010
CM980849
CM004522
CM001167
CM910173
CM001168
CM960700
CM020715
CM960702
CM110540
CM110538
CM110539
CM900119
CM920317
CM973762
CM930364
CM061058
CM970710
CM900118
CM910201
CM097155
CM004360
GGG‐GAG
CCC‐CTC
CGC‐TGC
CGC‐CTC
AAG‐CAG
CCC‐CTC
TGG‐CGG
GCG‐GAG
AAG‐GAG
CCC‐CAC
GAA‐TAA
TTC‐TTA
CAT‐CAG
TTC‐TTA
ATT‐ACT
CCT‐CTT
CGC‐CAC
TAT‐TGT
CAT‐CGT
GGG‐AGG
TGT‐GGT
TAC‐TGC
AAC‐AAA
CTT‐CGT
CTG‐CCG
GGA‐GAA
AAT‐ATT
GTC‐TTC
GAC‐CAC
CCC‐CGC
ATG‐GTG
CTG‐CCG
GAT‐TAT
TCC‐CCC
GCG‐ACG
TTT‐ATT
TAT‐TAG
GTC‐CTC
ATC‐TTC
ACC‐ATC
GAC‐GAG
TTC‐TTG
TTC‐CTC
ATG‐AGG
ATG‐ATA
ATG‐ATC
ATG‐ATT
ATG‐CTG
ATG‐AAG
ATG‐ACG
ATG‐GTG
GAG‐GCG
GAG‐TAG
Gly122Glu
Pro161Leu
Arg170Cys
Arg170Leu
Lys196Gln
Pro221Leu
Trp223Arg
Ala229Glu
Lys237Glu
Pro240His
Glu272Term
Phe290Leu
His294Gln
Phe298Leu
Ile299Thr
Pro305Leu
Arg324His
Tyr343Cys
His350Arg
Gly364Arg
Cys381Gly
Tyr402Cys
Asn421Lys
Leu422Arg
Leu424Pro
Gly428Glu
Asn431Ile
Val437Phe
Asp448His
Pro454Arg
Met455Val
Leu483Pro
Asp513Tyr
Ser527Pro
Ala229Thr
Phe252Ile
Tyr343Term
Val437Leu
Ile441Phe
Thr530Ile
Asp354Glu
Phe370Leu
Phe386Leu
Met1Arg
Met1Ile
Met1Ile
Met1Ile
Met1Leu
Met1Lys
Met1Thr
Met1Val
Glu7Ala
Glu7Term
365G>A
482C>T
508C>T
509G>T
586A>C
662C>T
667T>C
686C>A
709A>G
719C>A
814G>T
870C>A
882T>G
894C>A
896T>C
914C>T
971G>A
1028A>G
1049A>G
1090G>A
1141T>G
1205A>G
1263C>A
1265T>G
1271T>C
1283G>A
1292A>T
1309G>T
1342G>C
1361C>G
1363A>G
1448T>C
1537G>T
1579T>C
685G>A
754T>A
1029T>G
1309G>C
1321A>T
1589C>T
1062C>G
1110C>G
1156T>C
2T>G
3G>A
3G>C
3G>T
1A>C
2T>A
2T>C
1A>G
20A>C
19G>T
G122E
P161L
R170C
R170L
K196Q
P221L
W223R
A229E
K237E
P240H
E272*
F290L
H294Q
F298L
I299T
P305L
R324H
Y343C
H350R
G364R
C381G
Y402C
N421K
L422R
L424P
G428E
N431I
V437F
D448H
P454R
M455V
L483P
D513Y
S527P
A229T
F252I
Y343*
V437L
I441F
T530I
D354E
F370L
F386L
M1R
M1I
M1I
M1I
M1L
M1K
M1T
M1V
E7A
E7*
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 2
Gaucher disease 3
Gaucher disease 3
Gaucher disease 3
Gaucher disease 3
Gaucher disease 3
Gaucher disease 3
Gaucher disease 3B
Gaucher disease 3B
Gaucher disease 3B
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Jeong (2011) Blood Cells Mol Dis 46:11
Tang (2005) Hum Mutat 26:59
Sinclair (1998) Blood Cells Mol Dis 24:420
Stone (2000) Hum Mutat 15:181
Latham (1991) DNA Cell Biol 10:15
Montfort (2004) Hum Mutat 23:567
Choy (2000) Pediatr Dev Pathol 3:180
Stone (2000) Hum Mutat 15:181
Orvisky (2002) Hum Mutat 19:458
Jeong (2011) Blood Cells Mol Dis 46:11
Grace (1999) J Clin Invest 103:817
Orvisky (2002) Hum Mutat 19:458
Stone (2000) Hum Mutat 15:181
Stone (2000) Hum Mutat 15:181
Chabas (2005) Blood Cells Mol Dis 35:253
Cooper (2000) Hum Genet 107:535
Stone (2000) Hum Mutat 15:181
Stone (2000) Hum Mutat 15:181
Stone (1999) Eur J Hum Genet 7:505
Eyal (1990) Gene 96:277
Eyal (1990) Gene 96:277
Tang (2005) Hum Mutat 26:59
Tang (2005) Hum Mutat 26:59
Tang (2005) Hum Mutat 26:59
Tang (2005) Hum Mutat 26:59
Cormand (1998) Hum Mutat 11:295
Cormand (1998) Hum Mutat 11:295
Stone (1999) Eur J Hum Genet 7:505
Eyal (1990) Gene 96:277
Widgerson (1989) Am J Hum Genet 44:365
Tang (2005) Hum Mutat 26:59
Tsuji (1987) N Engl J Med 316:570
Choy (1998) Am J Med Genet 78:92
Filocamo (2000) Blood Cells Mol Dis 26:611
Koprivica (2000) Am J Hum Genet 66:1777
Kawame (1991) Am J Hum Genet 49:1378
Koprivica (2000) Am J Hum Genet 66:1777
Seeman (1996) Neurology 46:1102
Orvisky (2002) Hum Mutat 19:458
Seeman (1996) Neurology 46:1102
Jeong (2011) Blood Cells Mol Dis 46:11
Jeong (2011) Blood Cells Mol Dis 46:11
Jeong (2011) Blood Cells Mol Dis 46:11
Lam (1990) Blood 75:1207
Saba (1992) Hum Mutat 1:420
Ohba (1997) Hemoglobin 21:191
Rahbar (1993) Hemoglobin 17:557
Knott (2006) Blood Cells Mol Dis 36:265
Waye (1997) Am J Hematol 56:179
Jankovic (1990) Hemoglobin 14:169
Hattori (1991) Hemoglobin 15:317
Thongnoppakhun (2009) J Mol Diagn 11:334
Grignoli (2000) Eur J Haematol 64:137
PubMed 20729108
PubMed 15954102
PubMed 9851895
PubMed 10649495
PubMed 1899336
PubMed 15146461
PubMed 10679038
PubMed 10649495
PubMed 11933202
PubMed 20729108
PubMed 10079102
PubMed 11933202
PubMed 10649495
PubMed 10649495
PubMed 15967693
Source: Online submission
PubMed 10649495
PubMed 10649495
PubMed 10352942
PubMed 2269438
PubMed 2269438
PubMed 15954102
PubMed 15954102
PubMed 15954102
PubMed 15954102
PubMed 9554746
PubMed 9554746
PubMed 10352942
PubMed 2269438
PubMed 2464926
PubMed 15954102
PubMed 2880291
PubMed 9637431
PubMed 11358352
PubMed 10796875
PubMed 1840477
PubMed 10796875
PubMed 8780099
PubMed 11933202
PubMed 8780099
PubMed 20729108
PubMed 20729108
PubMed 20729108
PubMed 2306523
PubMed 1301952
PubMed 9101288
PubMed 8144357
PubMed 16466947
PubMed 9371531
PubMed 2272840
PubMed 1686262
PubMed 19460936
PubMed 10997336
www.ngpd.it
Elenco mutazioni NGPD
HBB
HBB
CM081300
CM092642
GAG‐TAG
GCC‐GTC
Glu8Term
Ala14Val
22G>T
41C>T
E8*
A14V
Thalassaemia beta
Thalassaemia beta
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
BM1360168
CM840003
CM900120
CM140701
CM790002
CM890058
CM970711
CM073121
CM920319
CM820002
CTG‐CTA
TGG‐TAG
TGG‐TGA
AAG‐ATG
AAG‐TAG
AAC‐AGC
GAA‐GCA
GAA‐CAA
GAA‐TAA
GAG‐AAG
Leu15Leu
Trp16Term
Trp16Term
Lys18Met
Lys18Term
Asn20Ser
Glu23Ala
Glu23Gln
Glu23Term
Glu27Lys
45G>A
47G>A
48G>A
53A>T
52A>T
59A>G
68A>C
67G>C
67G>T
79G>A
L15L
W16*
W16*
K18M
K18*
N20S
E23A
E23Q
E23*
E27K
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HBB
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
CM950610
CM840004
CM950612
CM099608
CM900121
CM950613
CM860011
CM810001
CM880039
BM1132884
CM1213362
CM034660
CM880040
CM057104
CM930374
CM100925
CM087534
CM900122
CM023934
CM950618
CM076228
CM870012
CM930379
CM920325
CM930380
CM057102
CM860012
CM950620
CM910209
CM102820
CM920326
CM870092
CM830034
CM133851
CM930389
CM920329
CM930390
CM910214
CM930391
GAG‐TAG
GCC‐TCC
CTG‐CAG
TAC‐TGC
TAC‐TAA
TGG‐TAG
TGG‐TGA
CAG‐TAG
GAG‐TAG
GGC‐CGC
AAG‐AAC
AAG‐TAG
AAG‐TAG
GCC‐GGC
AGT‐AGA
AAG‐TAG
ACA‐CCA
GAG‐TAG
AAG‐TAG
GTG‐ATG
CTG‐GTG
CTG‐CCG
TGT‐TGA
CTG‐CCG
GCC‐GAC
CAT‐CCT
GAA‐TAA
CAG‐CCG
CAG‐TAG
GCC‐GTC
CAG‐AAG
AAA‐CAA
GTG‐GAG
ATG‐CTG
ATG‐ACG
ATG‐GTG
CCC‐TCC
TGG‐TGA
CTT‐CGT
Glu27Term
Ala28Ser
Leu33Gln
Tyr36Cys
Tyr36Term
Trp38Term
Trp38Term
Gln40Term
Glu44Term
Gly57Arg
Lys60Asn
Lys60Term
Lys62Term
Ala71Gly
Ser73Arg
Lys83Term
Thr88Pro
Glu91Term
Lys96Term
Val99Met
Leu107Val
Leu111Pro
Cys113Term
Leu115Pro
Ala116Asp
His117Pro
Glu122Term
Gln128Pro
Gln128Term
Ala130Val
Gln132Lys
Lys133Gln
Val135Glu
Met1Leu
Met1Thr
Met1Val
Pro25Ser
Trp26Term
Leu39Arg
79G>T
82G>T
98T>A
107A>G
108C>A
113G>A
114G>A
118C>T
130G>T
169G>C
180G>C
178A>T
184A>T
212C>G
219T>A
247A>T
262A>C
271G>T
286A>T
295G>A
319C>G
332T>C
339T>A
344T>C
347C>A
350A>C
364G>T
383A>C
382C>T
389C>T
394C>A
397A>C
404T>A
1A>C
2T>C
1A>G
73C>T
78G>A
116T>G
E27*
A28S
L33Q
Y36C
Y36*
W38*
W38*
Q40*
E44*
G57R
K60N
K60*
K62*
A71G
S73R
K83*
T88P
E91*
K96*
V99M
L107V
L111P
C113*
L115P
A116D
H117P
E122*
Q128P
Q128*
A130V
Q132K
K133Q
V135E
M1L
M1T
M1V
P25S
W26*
L39R
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Thalassaemia beta
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Boussiou (2008) Blood Cells Mol Dis 40:317
Colah (2009) Blood Cells Mol Dis 42:241
Dassanayake (2013) Southeast Asian J Trop Med Public Health 44:114
Kazazian (1984) EMBO J 3:593
Aelehla (1990) Hum Genet 84:195
van Zwieten (2014) Hemoglobin 38:1
Chang (1979) Proc Natl Acad Sci U S A 76:2886
Yang (1989) Br J Haematol 72:73
el‐Hashemite (1997) Hum Genet 99:271
Agrawal (2007) Eur J Haematol 79:248
Ghanem (1992) Hum Mutat 1:229
Orkin (1982) Nature 300:768
Fucharoen (1990) Biochem Biophys Res Commun 170:698
Orkin (1984) Blood 64:311
Coleman (1995) J Clin Invest 95:503
Kumar (2009) Ann Hematol 88:1269
Thein (1990) Am J Hum Genet 47:369
Xu (1995) Br J Haematol 90:960
Boehm (1986) Blood 67:1185
Trecartin (1981) J Clin Invest 68:1012
Atweh (1988) J Clin Invest 82:557
Bilgen (2011) Blood Cells Mol Dis 46:226
Zhu (2012) Zhonghua Fu Chan Ke Za Zhi 47:85
Patterson (2003) Hemoglobin 27:201
Gonzalez‐Redondo (1988) Blood 72:1007
Hoyer (2005) Hemoglobin 29:241
Rochette (1994) Br J Haematol 86:118
Angalena (2010) Int J Lab Hematol 32:548
Parrinello (2008) Am J Med Sci 336:508
Fucharoen (1990) Br J Haematol 74:101
Najmabadi (2002) Haematologica 87:1113
Coleman (1995) J Clin Invest 95:503
Amato (2007) Hemoglobin 31:375
Kobayashi (1987) Blood 70:1688
Divoky (1993) Br J Haematol 83:523
Murru (1992) Hum Mutat 1:124
Divoky (1993) Hemoglobin 17:319
Hoyer (2005) Hemoglobin 29:241
Kazazian (1986) Am J Hum Genet 38:860
Baysal (1995) Hemoglobin 19:213
Hall (1991) Br J Haematol 79:342
Al‐Gazali (2010) Hum Mutat 31:505
Churuk (1992) Hemoglobin 16:417
Cabannes (1980) J Med Genet 17:183
Smith (1983) Blood 61:378
Strom (2013) Open J Genet 3:61
Harmon (1993) J Med Genet 30:123
Mules (1992) Am J Hum Genet 50:834
Harmon (1993) J Med Genet 30:123
Triggs‐Raine (1991) Am J Hum Genet 49:1041
Akli (1993) Hum Mol Genet 2:61
PubMed 18096416
PubMed 19254853
PubMed 23682446
PubMed 6714226
PubMed 2298457
PubMed 24200101
PubMed 88735
PubMed 2736244
PubMed 9048934
PubMed 17655708
PubMed 1301930
PubMed 7177196
PubMed 1974422
PubMed 6733281
PubMed 7860732
PubMed 19488752
PubMed 2393018
PubMed 7669681
PubMed 3006832
PubMed 6457059
PubMed 3403716
PubMed 21333566
PubMed 22455737
PubMed 12908806
PubMed 2458145
PubMed 16370483
PubMed 8011519
PubMed 20136848
PubMed 19092326
PubMed 2310691
PubMed 12368169
PubMed 7860732
PubMed 17654075
PubMed 2822177
PubMed 8485062
PubMed 1301199
PubMed 7693620
PubMed 16370483
PubMed 3014870
PubMed 7558879
PubMed 1958498
PubMed 20437613
PubMed 1428946
PubMed 6249934
PubMed 6821704
PubMed: No PubMed ID
PubMed 8445615
PubMed 1532289
PubMed 8445615
PubMed 1833974
PubMed 8490625
www.ngpd.it
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
Elenco mutazioni NGPD
CM123432
CM118197
CM970715
CM125498
CM930392
CM970716
CM910215
CM952144
CM920330
CM920331
CM1313564
CM900126
CM880041
CM910216
CM126851
CM126850
CM920332
CM920333
CM950623
CM930393
CM920334
CM053923
CM930394
CM101085
CM123436
CM910217
CM930395
CM970717
CM053922
CM952145
CM920336
CM950624
CM001188
CM920337
CM100313
CM126852
CM141265
CM126853
CM1313565
CM970718
CM890061
CM970719
CM011363
CM930397
CM970720
CM125496
CM125497
CM100312
CM920338
CM940929
CM126854
CM053921
CM141266
TCG‐TAG
TGC‐TAC
CAG‐TAG
GAG‐AAG
CTC‐CGC
CTC‐TTC
CGA‐TGA
CGC‐GGC
CGG‐CAG
CGG‐TGG
GAT‐GCT
CGC‐TGC
CGC‐CAC
CGC‐CTC
CAT‐CGT
CAT‐TAT
TAC‐TAG
GTC‐CTC
AAT‐AGT
AAA‐ACA
GTG‐ATG
TGG‐GGG
CAT‐CGT
GAT‐GAG
GAT‐GTT
TCC‐TTC
TTC‐TCC
TCC‐TTC
GCA‐ACA
CGG‐CAG
GGT‐GAT
GGT‐AGT
GGT‐GTT
GAC‐CAC
ACT‐GCT
CCT‐TCT
ACT‐ATT
TGG‐GGG
GGT‐CGT
GGT‐GAT
GGT‐AGT
TCT‐CCT
TTC‐CTC
ATG‐AGG
GAT‐GTT
GAT‐AAT
GAT‐TAT
GAT‐GTT
TGG‐TAG
ATC‐TTC
CAG‐CAT
CAG‐CGG
CAG‐CCG
Ser52Term
Cys58Tyr
Gln106Term
Glu114Lys
Leu127Arg
Leu127Phe
Arg137Term
Arg166Gly
Arg170Gln
Arg170Trp
Asp175Ala
Arg178Cys
Arg178His
Arg178Leu
His179Arg
His179Tyr
Tyr180Term
Val192Leu
Asn196Ser
Lys197Thr
Val200Met
Trp203Gly
His204Arg
Asp207Glu
Asp208Val
Ser210Phe
Phe211Ser
Ser226Phe
Ala246Thr
Arg249Gln
Gly250Asp
Gly250Ser
Gly250Val
Asp258His
Thr259Ala
Pro260Ser
Thr263Ile
Trp266Gly
Gly269Arg
Gly269Asp
Gly269Ser
Ser279Pro
Phe300Leu
Met301Arg
Asp314Val
Asp322Asn
Asp322Tyr
Asp322Val
Trp329Term
Ile335Phe
Gln336His
Gln374Arg
Gln374Pro
155C>A
173G>A
316C>T
340G>A
380T>G
379C>T
409C>T
496C>G
509G>A
508C>T
524A>C
532C>T
533G>A
533G>T
536A>G
535C>T
540C>G
574G>C
587A>G
590A>C
598G>A
607T>G
611A>G
621T>G
623A>T
629C>T
632T>C
677C>T
736G>A
746G>A
749G>A
748G>A
749G>T
772G>C
775A>G
778C>T
788C>T
796T>G
805G>C
806G>A
805G>A
835T>C
898T>C
902T>G
941A>T
964G>A
964G>T
965A>T
986G>A
1003A>T
1008G>T
1121A>G
1121A>C
S52*
C58Y
Q106*
E114K
L127R
L127F
R137*
R166G
R170Q
R170W
D175A
R178C
R178H
R178L
H179R
H179Y
Y180*
V192L
N196S
K197T
V200M
W203G
H204R
D207E
D208V
S210F
F211S
S226F
A246T
R249Q
G250D
G250S
G250V
D258H
T259A
P260S
T263I
W266G
G269R
G269D
G269S
S279P
F300L
M301R
D314V
D322N
D322Y
D322V
W329*
I335F
Q336H
Q374R
Q374P
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Zampieri (2012) Gene 499:262
Najmabadi (2011) Nature 478:57
Akerman (1997) Am J Hum Genet 60:1099
Mistri (2012) PLoS One 7:e39122
Akli (1993) Hum Mol Genet 2:61
Akerman (1997) Am J Hum Genet 60:1099
Akli (1991) Genomics 11:124
Peleg (1995) Biochem Mol Med 54:126
Nakano (1990) Ann Neurol 27:465
Fernandes (1992) Hum Mol Genet 1:759
Mistri (2013) Mol Genet Metab 111:S77
Tanaka (1990) Am J Hum Genet 46:329
Ohno (1988) J Neurochem 50:316
Triggs‐Raine (1991) Am J Hum Genet 49:1041
Gort (2012) Gene 506:25
Gort (2012) Gene 506:25
Drucker (1992) Am J Hum Genet 51:371
Ainsworth (1992) Am J Hum Genet 51:802
Triggs‐Raine (1995) Am J Hum Genet 56:870
Akli (1993) Hum Mol Genet 2:61
Ainsworth (1992) Am J Hum Genet 51:802
Montalvo (2005) Hum Mutat 26:282
Akli (1993) Hum Mol Genet 2:61
Giraud (2010) Biochem Biophys Res Commun 392:599
Zampieri (2012) Gene 499:262
Akli (1991) Genomics 11:124
Akli (1993) Hum Mol Genet 2:61
Akerman (1997) Am J Hum Genet 60:1099
Montalvo (2005) Hum Mutat 26:282
Callahan (1995) HEXA LSDB entry Meeting abstract:
Trop (1992) Hum Mutat 1:35
Triggs‐Raine (1995) Am J Hum Genet 56:870
Karpati (2000) Clin Genet 57:398
Fernandes (1992) Hum Mol Genet 1:759
Park (2010) Pediatr Res 67:217
Gort (2012) Gene 506:25
Sheth (2014) JIMD Rep 12:51
Gort (2012) Gene 506:25
Mistri (2013) Mol Genet Metab 111:S77
Akerman (1997) Am J Hum Genet 60:1099
Navon (1989) Science 243:1471
Drucker (1997) Hum Mutat 10:451
No author given (2001) HEXA LSDB entry Unpublished:
Akli (1993) Eur J Hum Genet 1:229
Akerman (1997) Am J Hum Genet 60:1099
Mistri (2012) PLoS One 7:e39122
Mistri (2012) PLoS One 7:e39122
Park (2010) Pediatr Res 67:217
Mules (1992) Am J Hum Genet 50:834
Tomczak (1994) Hum Mutat 4:71
Gort (2012) Gene 506:25
Montalvo (2005) Hum Mutat 26:282
Sheth (2014) JIMD Rep 12:51
PubMed 22441121
PubMed 21937992
PubMed 9150157
PubMed 22723944
PubMed 8490625
PubMed 9150157
PubMed 1837283
PubMed 8581357
PubMed 2141777
PubMed 1302612
PubMed: No PubMed ID
PubMed 2137287
PubMed 2961848
PubMed 1833974
PubMed 22789865
PubMed 22789865
PubMed 1322637
PubMed 1415222
PubMed 7717398
PubMed 8490625
PubMed 1415222
PubMed 16088929
PubMed 8490625
PubMed 20100466
PubMed 22441121
PubMed 1837283
PubMed 8490625
PubMed 9150157
PubMed 16088929
Source: LSDB
PubMed 1301189
PubMed 7717398
PubMed 10852376
PubMed 1302612
PubMed 19858779
PubMed 22789865
PubMed 23852624
PubMed 22789865
PubMed: No PubMed ID
PubMed 9150157
PubMed 2522679
PubMed 9401008
Source: LSDB
PubMed 8044648
PubMed 9150157
PubMed 22723944
PubMed 22723944
PubMed 19858779
PubMed 1532289
PubMed 7951261
PubMed 22789865
PubMed 16088929
PubMed 23852624
www.ngpd.it
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HEXA
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
HFE
Elenco mutazioni NGPD
CM950625
CM970721
CM920339
CM125500
CM910218
CM900127
CM053924
CM126855
CM043847
CM983745
CM930398
CM970722
CM940930
CM133849
CM125495
CM011364
BM1426423
CM123433
CM125499
CM133850
CM880042
CM942062
CM920340
CM141270
HM080090
CM920341
CM910219
CM910220
CM123435
CM123434
CM032270
CM091838
CM994469
CM994470
HM971246
CM020721
CM990719
CM990720
CM990721
CM091839
CM091840
CM004810
CM004106
CM004107
CM015326
CM081301
CM1312218
CM101181
CM101562
CM024530
CM004391
CM032271
CM147311
ATC‐ATG
CAG‐TAG
TGG‐TAG
CGA‐CCA
CGA‐TGA
TGG‐TGC
TGG‐TAG
TTC‐TTG
CTG‐GTG
GGT‐GAT
GGT‐AGT
GGA‐AGA
TGT‐TAT
ATG‐GTG
GAA‐GTA
GAC‐AAC
TGG‐TAG
AGA‐TGA
GGG‐AGG
GCT‐ACT
GAA‐AAA
CTG‐CCG
TGG‐CGG
TGG‐TAG
TAT‐TGT
CGT‐TGT
CGT‐CAT
CGC‐TGC
CGC‐CTC
CAG‐TAG
AGG‐AGC
TTG‐TGG
GTG‐ATG
GTG‐ATG
CAT‐CAC
CGA‐TGA
GGG‐CGG
ATT‐ACT
CAA‐CAC
GAC‐AAC
TAC‐TAG
GAG‐CAG
GAG‐TAG
TGG‐TAG
GCC‐GTC
CTG‐CCG
CGG‐GGG
CAG‐TAG
GCT‐TCT
GTA‐TTA
TGC‐TCC
CAG‐CCG
CAG‐TAG
Ile388Met
Gln390Term
Trp392Term
Arg393Pro
Arg393Term
Trp420Cys
Trp431Term
Phe434Leu
Leu451Val
Gly454Asp
Gly454Ser
Gly455Arg
Cys458Tyr
Met459Val
Glu462Val
Asp465Asn
Trp474Term
Arg476Term
Gly478Arg
Ala479Thr
Glu482Lys
Leu484Pro
Trp485Arg
Trp485Term
Tyr497Cys
Arg499Cys
Arg499His
Arg504Cys
Arg504Leu
Gln513Term
Arg6Ser
Leu46Trp
Val53Met
Val59Met
His63His
Arg71Term
Gly93Arg
Ile105Thr
Gln127His
Asp129Asn
Tyr138Term
Glu168Gln
Glu168Term
Trp169Term
Ala176Val
Leu183Pro
Arg226Gly
Gln233Term
Ala271Ser
Val272Leu
Cys282Ser
Gln283Pro
Gln283Term
1164C>G
1168C>T
1175G>A
1178G>C
1177C>T
1260G>C
1292G>A
1302C>G
1351C>G
1361G>A
1360G>A
1363G>A
1373G>A
1375A>G
1385A>T
1393G>A
1421G>A
1426A>T
1432G>A
1435G>A
1444G>A
1451T>C
1453T>C
1454G>A
1490A>G
1495C>T
1496G>A
1510C>T
1511G>T
1537C>T
18G>C
137T>G
157G>A
175G>A
189T>C
211C>T
277G>C
314T>C
381A>C
385G>A
414C>G
502G>C
502G>T
506G>A
527C>T
548T>C
676C>G
697C>T
811G>T
814G>T
845G>C
848A>C
847C>T
I388M
Q390*
W392*
R393P
R393*
W420C
W431*
F434L
L451V
G454D
G454S
G455R
C458Y
M459V
E462V
D465N
W474*
R476*
G478R
A479T
E482K
L484P
W485R
W485*
Y497C
R499C
R499H
R504C
R504L
Q513*
R6S
L46W
V53M
V59M
H63H
R71*
G93R
I105T
Q127H
D129N
Y138*
E168Q
E168*
W169*
A176V
L183P
R226G
Q233*
A271S
V272L
C282S
Q283P
Q283*
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Tay‐Sachs disease
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Haemochromatosis
Triggs‐Raine (1995) Am J Hum Genet 56:870
Akerman (1997) Am J Hum Genet 60:1099
Shore (1992) Hum Mutat 1:486
Mistri (2012) PLoS One 7:e39122
Akli (1991) Genomics 11:124
Tanaka (1990) Am J Hum Genet 47:568
Montalvo (2005) Hum Mutat 26:282
Gort (2012) Gene 506:25
Karpati (2004) Neurogenetics 5:35
Ozkara (1998) Mol Genet Metab 65:250
Akli (1993) Hum Mol Genet 2:61
Ribeiro (1997) Hum Mutat 10:359
Tanaka (1994) J Inherit Metab Dis 17:593
Strom (2013) Open J Genet 3:61
Mistri (2012) PLoS One 7:e39122
Alvarez‐Rodriguez (2001) Hum Mutat 17:437
Sheth (2014) JIMD Rep 12:51
Zampieri (2012) Gene 499:262
Mistri (2012) PLoS One 7:e39122
Strom (2013) Open J Genet 3:61
Nakano (1988) J Neurochem 51:984
Tanaka (1994) J Inherit Metab Dis 17:593
Akalin (1992) Hum Mutat 1:40
Sheth (2014) JIMD Rep 12:51
Chin (2009) Hum Genet 126:329
Mules (1992) Am J Hum Genet 50:834
Triggs‐Raine (1991) Am J Hum Genet 49:1041
Akli (1991) Genomics 11:124
Zampieri (2012) Gene 499:262
Zampieri (2012) Gene 499:262
Wigg (2003) Gut 52:433
Mendes (2009) Ann Hematol 88:229
de Villiers (1999) Hum Mol Genet 8:1517
de Villiers (1999) Hum Mol Genet 8:1517
de Villiers (1998) Hum Genet 102:127
Beutler (2002) Clin Genet 61:40
Barton (1999) Blood Cells Mol Dis 25:147
Barton (1999) Blood Cells Mol Dis 25:147
de Villiers (1999) Hum Mol Genet 8:1517
Mendes (2009) Ann Hematol 88:229
Mendes (2009) Ann Hematol 88:229
Oberkanins (2000) Genet Test 4:121
Piperno (2000) Gastroenterology 119:441
Piperno (2000) Gastroenterology 119:441
Imanishi (2001) Intern Med 40:479
Swinkels (2008) Blood Cells Mol Dis 40:334
Cézard (2014) Blood Cells Mol Dis 52:27
Mariani (2010) Blood Cells Mol Dis 44:159
Lam (2010) Mod Pathol 23:637
Jones (2002) Tissue Antigens 60:481
Rosmorduc (2000) Gastroenterology 119:1075
Le Gac (2003) Blood Cells Mol Dis 30:231
Padula (2014) Blood Cells Mol Dis 53:138
PubMed 7717398
PubMed 9150157
PubMed 1301958
PubMed 22723944
PubMed 1837283
PubMed 2144098
PubMed 16088929
PubMed 22789865
PubMed 14648242
PubMed 9851891
PubMed 8490625
PubMed 9375850
PubMed 7837766
PubMed: No PubMed ID
PubMed 22723944
PubMed 11317368
PubMed 23852624
PubMed 22441121
PubMed 22723944
PubMed: No PubMed ID
PubMed 2970528
PubMed 7837766
PubMed 1301190
PubMed 23852624
Source: Online submission
PubMed 1532289
PubMed 1833974
PubMed 1837283
PubMed 22441121
PubMed 22441121
PubMed 12584229
PubMed 18762941
PubMed 10401000
PubMed 10401000
Source: Online submission
PubMed 11903354
PubMed 10575540
PubMed 10575540
PubMed 10401000
PubMed 18762941
PubMed 18762941
PubMed 10953950
PubMed 10930379
PubMed 10930379
PubMed 11446670
PubMed 18042412
PubMed 23953397
PubMed 20117027
PubMed 20208481
PubMed 12542741
PubMed 11040194
PubMed 12737937
PubMed 24920245
www.ngpd.it
Elenco mutazioni NGPD
HFE
HFE
HM030028
CM990722
GTG‐GCG
AGG‐ATG
Val295Ala
Arg330Met
884T>C
989G>T
V295A
R330M
HFE
CM960827
CAT‐GAT
His63Asp
187C>G
H63D
HFE
CM990718
AGT‐TGT
Ser65Cys
193A>T
S65C
HFE
HPD
HPD
HPD
HPD
HPD
HRAS
HRAS
HRAS
HRAS
HRAS
HRAS
HRAS
HRAS
HRAS
HRAS
HRAS
HRAS
CM960828
CM001716
CM001717
CM001718
CM003890
CM001719
CM053284
CM081305
CM061797
CM053283
CM123157
CM053285
CM060018
CM081303
CM127689
CM061796
CM070951
CM081304
TGC‐TAC
TAT‐TGT
TAC‐TAG
TAT‐TAG
GCT‐GTT
ATC‐ATG
GGC‐GCC
GGC‐GAC
GGC‐TGC
GGC‐AGC
GGC‐GTC
GGT‐GAT
GGT‐TGT
ACC‐ATC
TCT‐TGT
AAG‐AGG
GCC‐ACC
GCC‐GTC
Cys282Tyr
Tyr160Cys
Tyr200Term
Tyr258Term
Ala268Val
Ile335Met
Gly12Ala
Gly12Asp
Gly12Cys
Gly12Ser
Gly12Val
Gly13Asp
Gly13Cys
Thr58Ile
Ser89Cys
Lys117Arg
Ala146Thr
Ala146Val
845G>A
479A>G
600C>G
774T>G
803C>T
1005C>G
35G>C
35G>A
34G>T
34G>A
35G>T
38G>A
37G>T
173C>T
266C>G
350A>G
436G>A
437C>T
C282Y
Y160C
Y200*
Y258*
A268V
I335M
G12A
G12D
G12C
G12S
G12V
G13D
G13C
T58I
S89C
K117R
A146T
A146V
IDUA
CM113970
ATG‐ACG
Met1Thr
2T>C
M1T
IDUA
CM139563
CAT‐CAG
His33Gln
99T>G
H33Q
IDUA
CM113972
CAT‐CCT
His33Pro
98A>C
H33P
IDUA
CM113971
TGG‐TGA
Trp41Term
123G>A
W41*
IDUA
CM113973
TTC‐TTA
Phe52Leu
156C>A
F52L
IDUA
CM1310270
CAC‐CAG
His82Gln
246C>G
H82Q
IDUA
CM1310271
GGC‐AGC
Gly84Ser
250G>A
G84S
IDUA
CM139560
CGG‐CAG
Arg105Gln
314G>A
R105Q
IDUA
CM139562
GAC‐TAC
Asp119Tyr
355G>T
D119Y
IDUA
CM139561
AGA‐AAA
Arg162Lys
485G>A
R162K
IDUA
CM113974
GGA‐GTA
Gly168Val
503G>T
G168V
IDUA
CM115687
TTC‐TCC
Phe177Ser
530T>C
F177S
IDUA
CM113975
ACG‐AGG
Thr179Arg
536C>G
T179R
IDUA
CM128164
TGG‐TCG
Trp180Ser
539G>C
W180S
IDUA
CM128165
TGG‐TGA
Trp180Term
540G>A
W180*
IDUA
CM113976
GAG‐GAC
Glu182Asp
546G>C
E182D
Haemochromatosis
Bento (2004) Hum Genet 114:405
Haemochromatosis
de Villiers (1999) Hum Mol Genet 8:1517
Haemochromatosis, association with
Feder (1996) Nat Genet 13:399
Haemochromatosis, association with
Mura (1999) Blood 93:2502
Haemochromatosis, association with
Feder (1996) Nat Genet 13:399
Tyrosinaemia 3
Ruetschi (2000) Hum Genet 106:654
Tyrosinaemia 3
Ruetschi (2000) Hum Genet 106:654
Tyrosinaemia 3
Ruetschi (2000) Hum Genet 106:654
Tyrosinaemia 3
Tomoeda (2000) Mol Genet Metab 71:506
Tyrosinaemia 3
Ruetschi (2000) Hum Genet 106:654
Costello syndrome
Aoki (2005) Nat Genet 37:1038
Costello syndrome
Lo (2008) J Med Genet 45:167
Costello syndrome
Hoornaert (2006) J Med Genet 43:406
Costello syndrome
Aoki (2005) Nat Genet 37:1038
Costello syndrome
Burkitt‐Wright (2012) Am J Med Genet A 158A:1102
Costello syndrome
Aoki (2005) Nat Genet 37:1038
Costello syndrome
Estep (2006) Am J Med Genet A 140A:8
Costello syndrome
Gripp (2008) Am J Med Genet A 146A:683
Costello syndrome
Gripp (2012) Am J Med Genet A 158A:2106
Costello syndrome
Hoornaert (2006) J Med Genet 43:406
Costello syndrome
Zampino (2007) Hum Mutat 28:265
Costello syndrome
Gripp (2008) Am J Med Genet A 146A:683
Mucopolysaccharidosis I
Wang (2012) Clin Genet 81:443
Mucopolysaccharidosis I
Lin (2013) Orphanet J Rare Dis 8:147
Mucopolysaccharidosis I
Wang (2012) Clin Genet 81:443
Mucopolysaccharidosis I
Wang (2012) Clin Genet 81:443
Mucopolysaccharidosis I
Wang (2012) Clin Genet 81:443
Mucopolysaccharidosis I
Scott (2013) J Pediatr 163:498
Mucopolysaccharidosis I
Scott (2013) J Pediatr 163:498
Mucopolysaccharidosis I
Lin (2013) Orphanet J Rare Dis 8:147
Mucopolysaccharidosis I
Lin (2013) Orphanet J Rare Dis 8:147
Mucopolysaccharidosis I
Lin (2013) Orphanet J Rare Dis 8:147
Mucopolysaccharidosis I
Wang (2012) Clin Genet 81:443
Mucopolysaccharidosis I
Chkioua (2011) Diagn Pathol 6:47
Mucopolysaccharidosis I
Wang (2012) Clin Genet 81:443
Mucopolysaccharidosis I
Pollard (2013) J Inherit Metab Dis 36:179
Mucopolysaccharidosis I
Pollard (2013) J Inherit Metab Dis 36:179
Mucopolysaccharidosis I
Wang (2012) Clin Genet 81:443
Source: Online submission
PubMed 10401000
PubMed 8696333
PubMed 10194428
PubMed 8696333
PubMed 10942115
PubMed 10942115
PubMed 10942115
PubMed 11073718
PubMed 10942115
PubMed 16170316
PubMed 18039947
PubMed 16155195
PubMed 16170316
PubMed 22495892
PubMed 16170316
PubMed 16372351
PubMed 18247425
PubMed 22821884
PubMed 16155195
PubMed 17054105
PubMed 18247425
PubMed 21480867
PubMed 24053568
PubMed 21480867
PubMed 21480867
PubMed 21480867
PubMed 23465405
PubMed 23465405
PubMed 24053568
PubMed 24053568
PubMed 24053568
PubMed 21480867
PubMed 21639919
PubMed 21480867
PubMed 22976768
PubMed 22976768
PubMed 21480867
www.ngpd.it
Elenco mutazioni NGPD
IDUA
CM113977
CTC‐CGC
Leu237Arg
710T>G
L237R
IDUA
CM113978
CTG‐CGG
Leu238Arg
713T>G
L238R
IDUA
CM1211766
GCG‐GAG
Ala367Glu
1100C>A
A367E
IDUA
CM113979
CTG‐CCG
Leu421Pro
1262T>C
L421P
IDUA
CM128166
CTG‐CCG
Leu526Pro
1577T>C
L526P
Mucopolysaccharidosis I
Mucopolysaccharidosis I
Mucopolysaccharidosis I
Mucopolysaccharidosis I
Mucopolysaccharidosis I
IKBKAP
CM010892
CGG‐CCG
Arg696Pro
2087G>C
R696P
IKBKAP
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
INPP5E
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
CM030891
CM139306
CM139303
CM139305
CM095409
CM0910655
CM095407
CM139301
CM139308
CM139302
CM095406
CM095408
CM139304
CM131888
CM139307
CM124889
CM123123
CM993737
CM030046
CM003434
CM061807
CM061808
CM003435
CM023393
CM030047
CM003436
CM003146
CM003437
CM061819
CM124890
CM030048
CM124891
CM123124
CM003438
CM016139
CM993738
CM102869
CM016138
CM146064
CM061805
CM061815
CCC‐CTC
GGG‐AGG
GTG‐ATG
AGG‐AGC
CGC‐TGC
ACC‐AAC
CGG‐CAG
TGG‐CGG
TAC‐GAC
TAC‐TAG
CGC‐CAC
AAG‐GAG
CGC‐TGC
CGG‐CAG
TGC‐CGC
CTG‐CCG
TGT‐CGT
CGA‐TGA
GCC‐GTC
GGT‐GAT
GGT‐AGT
GGT‐GTT
TTG‐TCG
ATC‐AGC
CTG‐CCG
CAG‐TAG
GAG‐TAG
CAG‐TAG
TGC‐TGA
TTC‐TTA
TTC‐TCC
TGC‐CGC
TGC‐GGC
TGC‐TCC
TGC‐TAC
CTC‐CAC
CTC‐TTC
GAG‐TAG
TAT‐TAG
TGC‐CGC
TGC‐TAC
Pro914Leu
Gly286Arg
Val303Met
Arg345Ser
Arg378Cys
Thr426Asn
Arg435Gln
Trp474Arg
Tyr534Asp
Tyr543Term
Arg563His
Lys580Glu
Arg585Cys
Arg621Gln
Cys641Arg
Leu20Pro
Cys22Arg
Arg25Term
Ala31Val
Gly33Asp
Gly33Ser
Gly33Val
Leu37Ser
Ile39Ser
Leu40Pro
Gln43Term
Glu48Term
Gln50Term
Cys55Term
Phe75Leu
Phe75Ser
Cys78Arg
Cys78Gly
Cys78Ser
Cys78Tyr
Leu79His
Leu79Phe
Glu81Term
Tyr82Term
Cys92Arg
Cys92Tyr
2741C>T
856G>A
907G>A
1035G>C
1132C>T
1277C>A
1304G>A
1420T>C
1600T>G
1629C>G
1688G>A
1738A>G
1753C>T
1862G>A
1921T>C
59T>C
64T>C
73C>T
92C>T
98G>A
97G>A
98G>T
110T>C
116T>G
119T>C
127C>T
142G>T
148C>T
165C>A
225C>A
224T>C
232T>C
232T>G
233G>C
233G>A
236T>A
235C>T
241G>T
246T>G
274T>C
275G>A
P914L
G286R
V303M
R345S
R378C
T426N
R435Q
W474R
Y534D
Y543*
R563H
K580E
R585C
R621Q
C641R
L20P
C22R
R25*
A31V
G33D
G33S
G33V
L37S
I39S
L40P
Q43*
E48*
Q50*
C55*
F75L
F75S
C78R
C78G
C78S
C78Y
L79H
L79F
E81*
Y82*
C92R
C92Y
Wang (2012) Clin Genet 81:443
PubMed 21480867
Wang (2012) Clin Genet 81:443
PubMed 21480867
de Ruijter (2012) Mol Genet Metab 107:705
PubMed 23084433
Wang (2012) Clin Genet 81:443
PubMed 21480867
Pollard (2013) J Inherit Metab Dis 36:179
PubMed 22976768
Dysautonomia, familial
Slaugenhaupt (2001) Am J Hum Genet 68:598
PubMed 11179008
Dysautonomia, familial
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Leyne (2003) Am J Med Genet 118A:305
Travaglini (2013) Eur J Hum Genet 21:1074
Travaglini (2013) Eur J Hum Genet 21:1074
Travaglini (2013) Eur J Hum Genet 21:1074
Bielas (2009) Nat Genet 41:1032
Poretti (2009) Neuropediatrics 40:287
Bielas (2009) Nat Genet 41:1032
Travaglini (2013) Eur J Hum Genet 21:1074
Travaglini (2013) Eur J Hum Genet 21:1074
Travaglini (2013) Eur J Hum Genet 21:1074
Bielas (2009) Nat Genet 41:1032
Bielas (2009) Nat Genet 41:1032
Travaglini (2013) Eur J Hum Genet 21:1074
Tsurusaki (2013) J Hum Genet 58:113
Travaglini (2013) Eur J Hum Genet 21:1074
Guegan (2012) Clin Genet 82:33
Lin (2012) Am J Med Genet A 158A:1005
Crosnier (1999) Gastroenterology 116:1141
Ropke (2003) Hum Mutat 21:100
Colliton (2000) Hum Mutat 17:151
Warthen (2006) Hum Mutat 27:436
Warthen (2006) Hum Mutat 27:436
Colliton (2000) Hum Mutat 17:151
Heritage (2002) Hum Mutat 20:481
Ropke (2003) Hum Mutat 21:100
Colliton (2000) Hum Mutat 17:151
Crosnier (2000) Hum Mutat 17:72
Colliton (2000) Hum Mutat 17:151
Warthen (2006) Hum Mutat 27:436
Guegan (2012) Clin Genet 82:33
Ropke (2003) Hum Mutat 21:100
Guegan (2012) Clin Genet 82:33
Lin (2012) Am J Med Genet A 158A:1005
Colliton (2000) Hum Mutat 17:151
Yuan (2001) Clin Genet 59:330
Crosnier (1999) Gastroenterology 116:1141
Al‐Gazali (2010) Hum Mutat 31:505
Yuan (2001) Clin Genet 59:330
Jurkiewicz (2014) J Appl Genet epub:epub
Warthen (2006) Hum Mutat 27:436
Warthen (2006) Hum Mutat 27:436
PubMed 12687659
PubMed 23386033
PubMed 23386033
PubMed 23386033
PubMed 19668216
PubMed 20446224
PubMed 19668216
PubMed 23386033
PubMed 23386033
PubMed 23386033
PubMed 19668216
PubMed 19668216
PubMed 23386033
PubMed 23034536
PubMed 23386033
PubMed 21752016
PubMed 22488849
PubMed 10220506
PubMed 12497640
PubMed 11180599
PubMed 16575836
PubMed 16575836
PubMed 11180599
PubMed 12442286
PubMed 12497640
PubMed 11180599
PubMed 11139247
PubMed 11180599
PubMed 16575836
PubMed 21752016
PubMed 12497640
PubMed 21752016
PubMed 22488849
PubMed 11180599
PubMed 11359464
PubMed 10220506
PubMed 20437613
PubMed 11359464
PubMed 24748328
PubMed 16575836
PubMed 16575836
www.ngpd.it
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
Elenco mutazioni NGPD
CM061810
CM051088
HM080056
CM030049
CM993739
CM030050
CM993740
CM082905
CM061812
CM992631
CM061806
CM030051
CM030052
CM993741
CM993742
CM003439
CM124892
CM003440
CM981096
CM993743
CM981095
CM992632
CM993744
CM051089
CM993745
CM061817
CM003147
CM030053
CM993746
CM002998
CM981097
CM061802
CM993747
CM051546
CM122862
CM061822
HM080055
CM993748
CM076244
CM124883
CM030054
CM061801
CM123125
CM051090
CM993749
CM993750
CM143731
CM061813
CM981098
CM124879
CM003148
CM061811
CM992633
TCA‐TAA
ATC‐AAC
CTG‐CCG
CCT‐TCT
GCC‐ACC
TGG‐TAG
CCG‐CGG
GTG‐GGG
CAA‐TAA
ATT‐ACT
GCT‐CCT
TCG‐TAG
CCC‐CGC
CCC‐CTC
CAG‐TAG
CAG‐TAG
TTT‐TCT
TAT‐AAT
CGC‐TGC
CGC‐GGC
CGC‐CAC
CGC‐CTC
TGT‐TCT
TGT‐TAT
TAC‐TAG
TGC‐TGA
TGC‐TTC
TGG‐TGT
TGT‐GGT
TGT‐TAT
CGA‐TGA
AGG‐GGG
TAC‐TAA
TAC‐TAG
GGC‐TGC
GGC‐AGC
TGG‐TAG
CAA‐TAA
GGC‐GTC
TGC‐TTC
CCG‐CTG
TGC‐CGC
TGG‐TAG
CAG‐TAG
TGT‐TTT
TGG‐TGC
CAG‐TAG
CAG‐TAG
TGT‐TGA
TAT‐TAA
GAG‐TAG
TCA‐TAA
GAG‐TAG
Ser96Term
Ile120Asn
Leu122Pro
Pro123Ser
Ala127Thr
Trp128Term
Pro129Arg
Val136Gly
Gln147Term
Ile152Thr
Ala155Pro
Ser158Term
Pro163Arg
Pro163Leu
Gln166Term
Gln172Term
Phe179Ser
Tyr181Asn
Arg184Cys
Arg184Gly
Arg184His
Arg184Leu
Cys187Ser
Cys187Tyr
Tyr191Term
Cys196Term
Cys220Phe
Trp224Cys
Cys229Gly
Cys229Tyr
Arg235Term
Arg252Gly
Tyr255Term
Tyr255Term
Gly256Cys
Gly256Ser
Trp257Term
Gln258Term
Gly259Val
Cys265Phe
Pro269Leu
Cys271Arg
Trp280Term
Gln281Term
Cys284Phe
Trp288Cys
Gln291Term
Gln304Term
Cys306Term
Tyr320Term
Glu326Term
Ser329Term
Glu337Term
287C>A
359T>A
365T>C
367C>T
379G>A
383G>A
386C>G
407T>G
439C>T
455T>C
463G>C
473C>A
488C>G
488C>T
496C>T
514C>T
536T>C
541T>A
550C>T
550C>G
551G>A
551G>T
560G>C
560G>A
573C>G
588C>A
659G>T
672G>T
685T>G
686G>A
703C>T
754A>G
765C>A
765C>G
766G>T
766G>A
770G>A
772C>T
776G>T
794G>T
806C>T
811T>C
839G>A
841C>T
851G>T
864G>C
871C>T
910C>T
918T>A
960T>A
976G>T
986C>A
1009G>T
S96*
I120N
L122P
P123S
A127T
W128*
P129R
V136G
Q147*
I152T
A155P
S158*
P163R
P163L
Q166*
Q172*
F179S
Y181N
R184C
R184G
R184H
R184L
C187S
C187Y
Y191*
C196*
C220F
W224C
C229G
C229Y
R235*
R252G
Y255*
Y255*
G256C
G256S
W257*
Q258*
G259V
C265F
P269L
C271R
W280*
Q281*
C284F
W288C
Q291*
Q304*
C306*
Y320*
E326*
S329*
E337*
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Warthen (2006) Hum Mutat 27:436
Jurkiewicz (2005) Hum Mutat 25:321
Conidi (2008) Hum Genet 124:322
Ropke (2003) Hum Mutat 21:100
Crosnier (1999) Gastroenterology 116:1141
Ropke (2003) Hum Mutat 21:100
Crosnier (1999) Gastroenterology 116:1141
Bourdeaut (2008) Pediatr Blood Cancer 50:908
Warthen (2006) Hum Mutat 27:436
Pilia (1999) Hum Mutat 14:394
Warthen (2006) Hum Mutat 27:436
Ropke (2003) Hum Mutat 21:100
Ropke (2003) Hum Mutat 21:100
Crosnier (1999) Gastroenterology 116:1141
Crosnier (1999) Gastroenterology 116:1141
Colliton (2000) Hum Mutat 17:151
Guegan (2012) Clin Genet 82:33
Colliton (2000) Hum Mutat 17:151
Krantz (1998) Am J Hum Genet 62:1361
Crosnier (1999) Gastroenterology 116:1141
Krantz (1998) Am J Hum Genet 62:1361
Pilia (1999) Hum Mutat 14:394
Crosnier (1999) Gastroenterology 116:1141
Jurkiewicz (2005) Hum Mutat 25:321
Crosnier (1999) Gastroenterology 116:1141
Warthen (2006) Hum Mutat 27:436
Crosnier (2000) Hum Mutat 17:72
Ropke (2003) Hum Mutat 21:100
Crosnier (1999) Gastroenterology 116:1141
Heritage (2000) Hum Mutat 16:408
Krantz (1998) Am J Hum Genet 62:1361
Warthen (2006) Hum Mutat 27:436
Crosnier (1999) Gastroenterology 116:1141
Witt (2004) J Pediatr Gastroenterol Nutr 38:105
Wang (2012) Gene 499:191
Warthen (2006) Hum Mutat 27:436
Conidi (2008) Hum Genet 124:321
Crosnier (1999) Gastroenterology 116:1141
Samejima (2007) Genet Test 11:216
Guegan (2012) Clin Genet 82:33
Ropke (2003) Hum Mutat 21:100
Warthen (2006) Hum Mutat 27:436
Lin (2012) Am J Med Genet A 158A:1005
Jurkiewicz (2005) Hum Mutat 25:321
Crosnier (1999) Gastroenterology 116:1141
Crosnier (1999) Gastroenterology 116:1141
Vazquez‐Martinez (2014) Meta Gene 2:32
Warthen (2006) Hum Mutat 27:436
Krantz (1998) Am J Hum Genet 62:1361
Guegan (2012) Clin Genet 82:33
Crosnier (2000) Hum Mutat 17:72
Warthen (2006) Hum Mutat 27:436
Pilia (1999) Hum Mutat 14:394
PubMed 16575836
PubMed 15712272
Source: Online submission
PubMed 12497640
PubMed 10220506
PubMed 12497640
PubMed 10220506
PubMed 17584876
PubMed 16575836
PubMed 10533065
PubMed 16575836
PubMed 12497640
PubMed 12497640
PubMed 10220506
PubMed 10220506
PubMed 11180599
PubMed 21752016
PubMed 11180599
PubMed 9585603
PubMed 10220506
PubMed 9585603
PubMed 10533065
PubMed 10220506
PubMed 15712272
PubMed 10220506
PubMed 16575836
PubMed 11139247
PubMed 12497640
PubMed 10220506
PubMed 11058898
PubMed 9585603
PubMed 16575836
PubMed 10220506
PubMed 14676605
PubMed 22405927
PubMed 16575836
Source: Online submission
PubMed 10220506
PubMed 17949281
PubMed 21752016
PubMed 12497640
PubMed 16575836
PubMed 22488849
PubMed 15712272
PubMed 10220506
PubMed 10220506
PubMed: No PubMed ID
PubMed 16575836
PubMed 9585603
PubMed 21752016
PubMed 11139247
PubMed 16575836
PubMed 10533065
www.ngpd.it
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
Elenco mutazioni NGPD
CM003441
CM124880
CM124881
CM002999
CM993751
CM981099
CM981100
CM051547
CM146062
CM003442
CM137087
CM146063
CM993752
CM061820
CM010331
CM061800
CM061803
CM003443
CM030055
CM143732
CM003444
CM003445
CM061809
CM076243
CM993753
CM030056
CM124893
CM061823
CM061821
HM080115
CM993754
CM061814
CM003446
CM993755
CM992634
CM993756
CM981101
CM003149
CM146065
BM1223640
CM003447
CM981102
CM992635
CM061818
CM143733
CM030057
HM080118
CM073151
HM080116
CM061804
CM981103
CM003000
CM981104
GAG‐TAG
GAG‐TAG
TGG‐TGA
GGG‐AGG
CAG‐TAG
AAG‐TAG
CAG‐TAG
CAG‐TAG
AAT‐ACT
TAC‐TAG
TGC‐TGG
TGT‐GGT
TGT‐TTT
TGG‐TAG
TGG‐TGA
AAT‐AGT
CAG‐TAG
CAG‐TAG
CAG‐TAG
CAG‐TAG
TAT‐TAG
GAG‐TAG
TAT‐TAG
GTG‐CTG
TAC‐TAG
TGG‐TAG
TGT‐TAT
TGT‐TAT
TGG‐TGA
TGC‐TGA
TCA‐TGA
CAG‐TAG
TGC‐TAC
TGT‐AGT
TGG‐TAG
TGT‐CGT
CGA‐TGA
TGC‐CGC
TGC‐TGA
TGG‐TAG
TGC‐TGA
CAG‐TAG
TAC‐TAA
TGC‐TGA
TGC‐TGA
CAG‐TAG
TGT‐TGA
CAG‐TAG
TGC‐TGA
CGG‐CAG
TCA‐TGA
TGG‐TGA
TGT‐TGA
Glu353Term
Glu361Term
Trp366Term
Gly386Arg
Gln390Term
Lys397Term
Gln403Term
Gln410Term
Asn429Thr
Tyr435Term
Cys436Trp
Cys438Gly
Cys438Phe
Trp442Term
Trp442Term
Asn504Ser
Gln510Term
Gln523Term
Gln535Term
Gln539Term
Tyr547Term
Glu553Term
Tyr555Term
Val574Leu
Tyr625Term
Trp659Term
Cys691Tyr
Cys693Tyr
Trp697Term
Cys702Term
Ser704Term
Gln708Term
Cys714Tyr
Cys731Ser
Trp735Term
Cys740Arg
Arg744Term
Cys753Arg
Cys768Term
Trp803Term
Cys806Term
Gln825Term
Tyr842Term
Cys846Term
Cys855Term
Gln856Term
Cys880Term
Gln884Term
Cys885Term
Arg889Gln
Ser893Term
Trp896Term
Cys897Term
1057G>T
1081G>T
1098G>A
1156G>A
1168C>T
1189A>T
1207C>T
1228C>T
1286A>C
1305C>G
1308C>G
1312T>G
1313G>T
1325G>A
1326G>A
1511A>G
1528C>T
1567C>T
1603C>T
1615C>T
1641T>G
1657G>T
1665T>G
1720G>C
1875C>G
1976G>A
2072G>A
2078G>A
2091G>A
2106C>A
2111C>G
2122C>T
2141G>A
2191T>A
2204G>A
2218T>C
2230C>T
2257T>C
2304C>A
2408G>A
2418C>A
2473C>T
2526C>A
2538C>A
2565C>A
2566C>T
2640T>A
2650C>T
2655C>A
2666G>A
2678C>G
2688G>A
2691T>A
E353*
E361*
W366*
G386R
Q390*
K397*
Q403*
Q410*
N429T
Y435*
C436W
C438G
C438F
W442*
W442*
N504S
Q510*
Q523*
Q535*
Q539*
Y547*
E553*
Y555*
V574L
Y625*
W659*
C691Y
C693Y
W697*
C702*
S704*
Q708*
C714Y
C731S
W735*
C740R
R744*
C753R
C768*
W803*
C806*
Q825*
Y842*
C846*
C855*
Q856*
C880*
Q884*
C885*
R889Q
S893*
W896*
C897*
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Colliton (2000) Hum Mutat 17:151
Guegan (2012) Clin Genet 82:33
Guegan (2012) Clin Genet 82:33
Heritage (2000) Hum Mutat 16:408
Crosnier (1999) Gastroenterology 116:1141
Krantz (1998) Am J Hum Genet 62:1361
Krantz (1998) Am J Hum Genet 62:1361
Boyer (2005) Hum Genet 116:445
Jurkiewicz (2014) J Appl Genet epub:epub
Colliton (2000) Hum Mutat 17:151
Vozzi (2013) Mol Syndromol 4:207
Jurkiewicz (2014) J Appl Genet epub:epub
Crosnier (1999) Gastroenterology 116:1141
Warthen (2006) Hum Mutat 27:436
Giannakudis (2001) Eur J Hum Genet 9:209
Warthen (2006) Hum Mutat 27:436
Warthen (2006) Hum Mutat 27:436
Colliton (2000) Hum Mutat 17:151
Ropke (2003) Hum Mutat 21:100
Vazquez‐Martinez (2014) Meta Gene 2:32
Colliton (2000) Hum Mutat 17:151
Colliton (2000) Hum Mutat 17:151
Warthen (2006) Hum Mutat 27:436
Samejima (2007) Genet Test 11:216
Crosnier (1999) Gastroenterology 116:1141
Ropke (2003) Hum Mutat 21:100
Guegan (2012) Clin Genet 82:33
Warthen (2006) Hum Mutat 27:436
Warthen (2006) Hum Mutat 27:436
Marchetti (2009) Hum Genet 126:344
Crosnier (1999) Gastroenterology 116:1141
Warthen (2006) Hum Mutat 27:436
Colliton (2000) Hum Mutat 17:151
Crosnier (1999) Gastroenterology 116:1141
Pilia (1999) Hum Mutat 14:394
Crosnier (1999) Gastroenterology 116:1141
Krantz (1998) Am J Hum Genet 62:1361
Crosnier (2000) Hum Mutat 17:72
Jurkiewicz (2014) J Appl Genet epub:epub
Mannion (2012) Pediatr Rheumatol Online J 10:32
Colliton (2000) Hum Mutat 17:151
Krantz (1998) Am J Hum Genet 62:1361
Pilia (1999) Hum Mutat 14:394
Warthen (2006) Hum Mutat 27:436
Vazquez‐Martinez (2014) Meta Gene 2:32
Ropke (2003) Hum Mutat 21:100
Marchetti (2009) Hum Genet 126:345
Liu (2007) Gastroenterology 132:119
Marchetti (2009) Hum Genet 126:344
Warthen (2006) Hum Mutat 27:436
Krantz (1998) Am J Hum Genet 62:1361
Heritage (2000) Hum Mutat 16:408
Krantz (1998) Am J Hum Genet 62:1361
PubMed 11180599
PubMed 21752016
PubMed 21752016
PubMed 11058898
PubMed 10220506
PubMed 9585603
PubMed 9585603
PubMed 15772854
PubMed 24748328
PubMed 11180599
PubMed 23801938
PubMed 24748328
PubMed 10220506
PubMed 16575836
PubMed 11313761
PubMed 16575836
PubMed 16575836
PubMed 11180599
PubMed 12497640
PubMed: No PubMed ID
PubMed 11180599
PubMed 11180599
PubMed 16575836
PubMed 17949281
PubMed 10220506
PubMed 12497640
PubMed 21752016
PubMed 16575836
PubMed 16575836
Source: Online submission
PubMed 10220506
PubMed 16575836
PubMed 11180599
PubMed 10220506
PubMed 10533065
PubMed 10220506
PubMed 9585603
PubMed 11139247
PubMed 24748328
PubMed 22937766
PubMed 11180599
PubMed 9585603
PubMed 10533065
PubMed 16575836
PubMed: No PubMed ID
PubMed 12497640
Source: Online submission
PubMed 17241866
Source: Online submission
PubMed 16575836
PubMed 9585603
PubMed 11058898
PubMed 9585603
www.ngpd.it
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
JAG1
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
Elenco mutazioni NGPD
CM993757
CM003448
CM023394
CM061816
CM023634
CM003150
CM124884
CM030058
CM030059
CM030060
CM016137
CM124894
CM993758
CM993759
CM124882
HM080117
CM970815
CM068328
CM144520
CM131832
CM131835
CM060292
CM131720
CM024598
CM131721
CM1111100
CM113482
CM1211851
CM131722
CM051091
CM062784
CM145513
CM107119
CM131833
CM051092
CM107120
CM104936
CM051093
CM144521
CM083532
CM131834
CM131723
CM016041
CM083531
CM107121
CM107122
CM147658
CM043296
CM053288
CM107123
CM051094
CM071810
CM144522
CGA‐TGA
TGC‐TCC
TGC‐TGA
TGC‐TAC
AGC‐AGG
CAG‐TAG
TGT‐TAT
CGG‐CAG
CAG‐TAG
CAG‐TAG
TTT‐CTT
TGC‐CGC
TGC‐TGA
GAG‐TAG
GAA‐TAA
CGG‐TGG
TAC‐TAA
GGC‐GAC
GGC‐AGC
GAG‐TAG
CGC‐CAC
TTC‐TTA
GTG‐GGG
AAG‐AAC
ACA‐ATA
TGG‐TAG
TGG‐TGA
GCC‐ACC
GGT‐AGT
GCC‐GAC
TCC‐CCC
GAG‐AAG
CAA‐CGA
GGC‐GAC
GGG‐GCG
CGC‐TGC
CGC‐CAC
CGC‐CTC
CGC‐AGC
GGG‐AGG
GCC‐GTC
GCC‐GTC
GCG‐GTG
GAC‐GAA
GCC‐ACC
ACC‐CCC
CAG‐GAG
CCG‐CTG
CAT‐CGT
CAT‐CAG
CCA‐CTA
GAG‐AAG
GGC‐GTC
Arg900Term
Cys902Ser
Cys902Term
Cys911Tyr
Ser913Arg
Gln924Term
Cys936Tyr
Arg937Gln
Gln942Term
Gln955Term
Phe965Leu
Cys980Arg
Cys1002Term
Glu1003Term
Glu1011Term
Arg1097Trp
Tyr12Term
Gly40Asp
Gly40Ser
Glu51Term
Arg54His
Phe55Leu
Val64Gly
Lys67Asn
Thr71Ile
Trp91Term
Trp91Term
Ala96Thr
Gly98Ser
Ala101Asp
Ser116Pro
Glu126Lys
Gln128Arg
Gly132Asp
Gly134Ala
Arg136Cys
Arg136His
Arg136Leu
Arg136Ser
Gly156Arg
Ala161Val
Ala172Val
Ala187Val
Asp204Glu
Ala213Thr
Thr223Pro
Gln235Glu
Pro254Leu
His259Arg
His259Gln
Pro266Leu
Glu282Lys
Gly289Val
2698C>T
2705G>C
2706C>A
2732G>A
2739C>G
2770C>T
2807G>A
2810G>A
2824C>T
2863C>T
2893T>C
2938T>C
3006C>A
3007G>T
3031G>T
3289C>T
36C>A
119G>A
118G>A
151G>T
161G>A
165C>A
191T>G
201G>C
212C>T
272G>A
273G>A
286G>A
292G>A
302C>A
346T>C
376G>A
383A>G
395G>A
401G>C
406C>T
407G>A
407G>T
406C>A
466G>A
482C>T
515C>T
560C>T
612C>A
637G>A
667A>C
703C>G
761C>T
776A>G
777T>G
797C>T
844G>A
866G>T
R900*
C902S
C902*
C911Y
S913R
Q924*
C936Y
R937Q
Q942*
Q955*
F965L
C980R
C1002*
E1003*
E1011*
R1097W
Y12*
G40D
G40S
E51*
R54H
F55L
V64G
K67N
T71I
W91*
W91*
A96T
G98S
A101D
S116P
E126K
Q128R
G132D
G134A
R136C
R136H
R136L
R136S
G156R
A161V
A172V
A187V
D204E
A213T
T223P
Q235E
P254L
H259R
H259Q
P266L
E282K
G289V
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Crosnier (1999) Gastroenterology 116:1141
Colliton (2000) Hum Mutat 17:151
Heritage (2002) Hum Mutat 20:481
Warthen (2006) Hum Mutat 27:436
Heritage (2002) Hum Mutat 20:481
Crosnier (2000) Hum Mutat 17:72
Guegan (2012) Clin Genet 82:33
Ropke (2003) Hum Mutat 21:100
Ropke (2003) Hum Mutat 21:100
Ropke (2003) Hum Mutat 21:100
Yuan (2001) Clin Genet 59:330
Guegan (2012) Clin Genet 82:33
Crosnier (1999) Gastroenterology 116:1141
Crosnier (1999) Gastroenterology 116:1141
Guegan (2012) Clin Genet 82:33
Marchetti (2009) Hum Genet 126:345
Nestorowicz (1997) Diabetes 46:1743
Suchi (2006) Mod Pathol 19:122
Mohnike (2014) Horm Res Paediatr 81:156
Kapoor (2013) Eur J Endocrinol 168:557
Kapoor (2013) Eur J Endocrinol 168:557
Lin (2006) J Biol Chem 281:3006
Snider (2013) J Clin Endocrinol Metab 98:E355
Huopio (2002) J Clin Endocrinol Metab 87:4502
Snider (2013) J Clin Endocrinol Metab 98:E355
Oçal (2011) J Pediatr Endocrinol Metab 24:1019
Park (2011) Eur J Endocrinol 164:919
Melikyan (2012) Horm Res 78S1:216
Snider (2013) J Clin Endocrinol Metab 98:E355
Henwood (2005) J Clin Endocrinol Metab 90:789
Suchi (2006) Mod Pathol 19:122
Demirbilek (2014) Eur J Endocrinol 170:885
Bellanné‐Chantelot (2010) J Med Genet 47:752
Kapoor (2013) Eur J Endocrinol 168:557
Suchi (2003) Pediatr Dev Pathol 6:322
Bellanné‐Chantelot (2010) J Med Genet 47:752
Sherif (2010) Acta Diabetol epub:epub
Stanley (2004) J Clin Endocrinol Metab 89:288
Mohnike (2014) Horm Res Paediatr 81:156
Pinney (2008) J Clin Invest 118:2877
Kapoor (2013) Eur J Endocrinol 168:557
Snider (2013) J Clin Endocrinol Metab 98:E355
Fournet (2001) Am J Pathol 158:2177
Pinney (2008) J Clin Invest 118:2877
Bellanné‐Chantelot (2010) J Med Genet 47:752
Bellanné‐Chantelot (2010) J Med Genet 47:752
Sang (2014) Endocr J epub:epub
Tornovsky (2004) J Clin Endocrinol Metab 89:6224
Marthinet (2005) J Clin Endocrinol Metab 90:5401
Bellanné‐Chantelot (2010) J Med Genet 47:752
Suchi (2003) Pediatr Dev Pathol 6:322
Christesen (2007) Horm Res 67:184
Mohnike (2014) Horm Res Paediatr 81:156
PubMed 10220506
PubMed 11180599
PubMed 12442286
PubMed 16575836
PubMed 12442286
PubMed 11139247
PubMed 21752016
PubMed 12497640
PubMed 12497640
PubMed 12497640
PubMed 11359464
PubMed 21752016
PubMed 10220506
PubMed 10220506
PubMed 21752016
Source: Online submission
PubMed 9356020
PubMed 16357843
PubMed 24401662
PubMed 23345197
PubMed 23345197
PubMed 16332676
PubMed 23275527
PubMed 12364426
PubMed 23275527
PubMed 22308858
PubMed 21422196
PubMed: No PubMed ID
PubMed 23275527
PubMed 15562009
PubMed 16357843
PubMed 24686051
PubMed 20685672
PubMed 23345197
PubMed 14692646
PubMed 20685672
PubMed 20686794
PubMed 14715863
PubMed 24401662
PubMed 18596924
PubMed 23345197
PubMed 23275527
PubMed 11395395
PubMed 18596924
PubMed 20685672
PubMed 20685672
PubMed 25008049
PubMed 15579781
PubMed 15998776
PubMed 20685672
PubMed 14692646
PubMed 17114887
PubMed 24401662
www.ngpd.it
Elenco mutazioni NGPD
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
KCNJ11
CM110577
CM131831
CM099731
CM088146
CM088147
CM051095
CM088145
CM107124
CM131724
CM144523
CM131836
CM131725
GTG‐ATG
GAA‐AAA
ACG‐ATG
CGC‐TGC
CGC‐GGC
CGC‐CAC
CGC‐CCC
TTT‐TCT
GTG‐GGG
CCC‐CAC
CGC‐CAC
CGC‐TGC
Val290Met
Glu292Lys
Thr294Met
Arg301Cys
Arg301Gly
Arg301His
Arg301Pro
Phe333Ser
Val339Gly
Pro340His
Arg347His
Arg365Cys
868G>A
874G>A
881C>T
901C>T
901C>G
902G>A
902G>C
998T>C
1016T>G
1019C>A
1040G>A
1093C>T
V290M
E292K
T294M
R301C
R301G
R301H
R301P
F333S
V339G
P340H
R347H
R365C
KCNJ11
CM136228
GCC‐GTC
Ala174Val
521C>T
A174V
KCNJ11
CM136229
GCG‐GAG
Ala187Glu
560C>A
A187E
KCNJ11
KDM6A
KDM6A
KDM6A
KDM6A
KDM6A
KDM6A
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
CM136230
CM146948
CM146951
CM1211999
CM146930
CM1211998
CM138471
CM146855
CM146856
CM114112
CM122083
CM122134
CM1312962
CM119946
CM114113
CM119945
CM138437
CM140859
CM146857
CM138454
CM146858
CM146859
CM119940
CM114142
CM119938
CM138436
CM1312956
CM114918
CM146860
CM122087
CM138455
CM146861
CM114917
CM138447
CM119943
CM1312959
CCA‐CTA
CGA‐TGA
AAG‐AGG
CGA‐TGA
GAC‐GTC
TGG‐TGA
CGA‐TGA
TCA‐CCA
ACA‐ATA
TAT‐TAG
GAG‐TAG
TCG‐TTG
GAG‐TAG
TCG‐TTG
GAA‐TAA
CCA‐CAA
GAG‐TAG
CCT‐GCT
CCG‐CTG
GAA‐TAA
ACA‐ATA
CCG‐CTG
GTG‐ATG
CGG‐CAG
GGA‐TGA
ATG‐AGG
TGT‐CGT
CGG‐CTG
GAG‐AAG
GAG‐TAG
CGT‐TGT
ATT‐ACT
TGT‐CGT
TGT‐GGT
CAC‐CGC
TGC‐CGC
Pro342Leu
Arg172Term
Lys188Arg
Arg519Term
Asp980Val
Trp1239Term
Arg1351Term
Ser116Pro
Thr209Ile
Tyr223Term
Glu233Term
Ser337Leu
Glu338Term
Ser543Leu
Glu641Term
Pro647Gln
Glu870Term
Pro998Ala
Pro1131Leu
Glu1171Term
Thr1175Ile
Pro1191Leu
Val1192Met
Arg1258Gln
Gly1320Term
Met1376Arg
Cys1380Arg
Arg1388Leu
Glu1391Lys
Glu1391Term
Arg1423Cys
Ile1428Thr
Cys1430Arg
Cys1445Gly
His1453Arg
Cys1471Arg
1025C>T
514C>T
563A>G
1555C>T
2939A>T
3717G>A
4051C>T
346T>C
626C>T
669T>G
697G>T
1010C>T
1012G>T
1628C>T
1921G>T
1940C>A
2608G>T
2992C>G
3392C>T
3511G>T
3524C>T
3572C>T
3574G>A
3773G>A
3958G>T
4127T>G
4138T>C
4163G>T
4171G>A
4171G>T
4267C>T
4283T>C
4288T>C
4333T>G
4358A>G
4411T>C
P342L
R172*
K188R
R519*
D980V
W1239*
R1351*
S116P
T209I
Y223*
E233*
S337L
E338*
S543L
E641*
P647Q
E870*
P998A
P1131L
E1171*
T1175I
P1191L
V1192M
R1258Q
G1320*
M1376R
C1380R
R1388L
E1391K
E1391*
R1423C
I1428T
C1430R
C1445G
H1453R
C1471R
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Hyperinsulinism of infancy
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Loechner (2011) Diabetes 60:209
Kapoor (2013) Eur J Endocrinol 168:557
Shimomura (2009) EMBO Mol Med 1:166
Lin (2008) J Biol Chem 283:9146
Lin (2008) J Biol Chem 283:9146
Stanley (2004) J Clin Endocrinol Metab 89:288
Lin (2008) J Biol Chem 283:9146
Bellanné‐Chantelot (2010) J Med Genet 47:752
Snider (2013) J Clin Endocrinol Metab 98:E355
Mohnike (2014) Horm Res Paediatr 81:156
Kapoor (2013) Eur J Endocrinol 168:557
Snider (2013) J Clin Endocrinol Metab 98:E355
PubMed 20980454
PubMed 23345197
PubMed 20049716
PubMed 18250167
PubMed 18250167
PubMed 14715863
PubMed 18250167
PubMed 20685672
PubMed 23275527
PubMed 24401662
PubMed 23345197
PubMed 23275527
Sogno Valin (2013) Horm Res Paediatr 79:236
PubMed 23652837
Sogno Valin (2013) Horm Res Paediatr 79:236
PubMed 23652837
Sogno Valin (2013) Horm Res Paediatr 79:236
Banka (2014) Clin Genet :
Banka (2014) Clin Genet :
Miyake (2012) Hum Mutat 34:108
Micale (2014) Hum Mutat 35:841
Miyake (2012) Hum Mutat 34:108
Miyake (2013) Am J Med Genet A 161:2234
Micale (2014) Hum Mutat 35:841
Micale (2014) Hum Mutat 35:841
Micale (2011) Orphanet J Rare Dis 6:
Banka (2012) Eur J Hum Genet 20:381
Banka (2012) Eur J Hum Genet 20:381
Makrythanasis (2013) Clin Genet :
Li (2011) Hum Genet 130:715
Micale (2011) Orphanet J Rare Dis 6:
Li (2011) Hum Genet 130:715
Miyake (2013) Am J Med Genet A 161:2234
Subbarayan (2014) Am J Med Genet A 164:467
Micale (2014) Hum Mutat 35:841
Miyake (2013) Am J Med Genet A 161:2234
Micale (2014) Hum Mutat 35:841
Micale (2014) Hum Mutat 35:841
Li (2011) Hum Genet 130:715
Micale (2011) Orphanet J Rare Dis 6:
Li (2011) Hum Genet 130:715
Miyake (2013) Am J Med Genet A 161:2234
Makrythanasis (2013) Clin Genet :
Hannibal (2011) Am J Med Genet A 155:1511
Micale (2014) Hum Mutat 35:841
Banka (2012) Eur J Hum Genet 20:381
Miyake (2013) Am J Med Genet A 161:2234
Micale (2014) Hum Mutat 35:841
Hannibal (2011) Am J Med Genet A 155:1511
Miyake (2013) Am J Med Genet A 161:2234
Li (2011) Hum Genet 130:715
Makrythanasis (2013) Clin Genet :
PubMed 23652837
PubMed 24527667
PubMed 24527667
PubMed 23076834
PubMed 24633898
PubMed 23076834
PubMed 23913813
PubMed 24633898
PubMed 24633898
PubMed 21658225
PubMed 22126750
PubMed 22126750
PubMed 23320472
PubMed 21607748
PubMed 21658225
PubMed 21607748
PubMed 23913813
PubMed 24311525
PubMed 24633898
PubMed 23913813
PubMed 24633898
PubMed 24633898
PubMed 21607748
PubMed 21658225
PubMed 21607748
PubMed 23913813
PubMed 23320472
PubMed 21671394
PubMed 24633898
PubMed 22126750
PubMed 23913813
PubMed 24633898
PubMed 21671394
PubMed 23913813
PubMed 21607748
PubMed 23320472
www.ngpd.it
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
Elenco mutazioni NGPD
CM114922
CM114114
CM146862
CM114143
CM138450
CM138440
CM105487
CM119944
CM146820
CM146863
CM146968
CM138449
CM146821
CM138435
CM114908
CM140857
CM105463
CM1312963
CM105467
CM146864
CM146865
CM146866
CM114905
CM114115
CM114116
CM111915
CM146824
CM1312964
CM122093
CM111916
CM111917
CM138446
CM119937
CM105465
CM114144
CM114921
CM114912
CM119939
CM122095
CM132755
CM129933
CM105475
CM138445
CM114117
CM146867
CM146868
CM105483
CM146826
CM114118
CM146869
CM114904
CM114119
CM105473
TGC‐TAC
TGG‐TGA
TCC‐TGC
CAG‐CGG
TGT‐TTT
CAG‐TAG
CGA‐TGA
GCG‐GTG
GAG‐TAG
GAG‐GAC
CAG‐TAG
CGA‐TGA
CAG‐TAG
CGA‐TGA
TAC‐TAA
CAG‐TAG
CAG‐TAG
CAA‐TAA
CGA‐TGA
GGC‐GAC
CCC‐TCC
CCT‐ACT
CGA‐TGA
CAG‐TAG
CGA‐TGA
CGA‐TGA
GAA‐TAA
GAG‐TAG
CGA‐TGA
CGA‐TGA
CGA‐TGA
CGA‐TGA
CAG‐TAG
CGA‐TGA
CCT‐ACT
GGA‐TGA
TAC‐TAG
CGA‐TGA
CAG‐TAG
CAG‐TAG
CAG‐TAG
CGA‐TGA
CAG‐TAG
CAG‐TAG
ATG‐GTG
GGA‐GTA
CAG‐TAG
CAG‐TAG
TCA‐TGA
CGC‐TGC
CAG‐TAG
CGA‐TGA
CAG‐TAG
Cys1471Tyr
Trp1473Term
Ser1476Cys
Gln1522Arg
Cys1526Phe
Gln1545Term
Arg1615Term
Ala1718Val
Glu1738Term
Glu1742Asp
Gln1755Term
Arg1757Term
Gln1892Term
Arg1903Term
Tyr1944Term
Gln1949Term
Gln2004Term
Gln2044Term
Arg2099Term
Gly2213Asp
Pro2271Ser
Pro2324Thr
Arg2410Term
Gln2416Term
Arg2635Term
Arg2645Term
Glu2646Term
Glu2678Term
Arg2687Term
Arg2734Term
Arg2771Term
Arg2801Term
Gln2811Term
Arg2830Term
Pro2841Thr
Gly2889Term
Tyr2907Term
Arg2915Term
Gln3269Term
Gln3277Term
Gln3311Term
Arg3321Term
Gln3364Term
Gln3379Term
Met3398Val
Gly3500Val
Gln3580Term
Gln3584Term
Ser3614Term
Arg3656Cys
Gln3683Term
Arg3707Term
Gln3717Term
4412G>A
4419G>A
4427C>G
4565A>G
4577G>T
4633C>T
4843C>T
5153C>T
5212G>T
5226G>C
5263C>T
5269C>T
5674C>T
5707C>T
5832C>A
5845C>T
6010C>T
6130C>T
6295C>T
6638G>A
6811C>T
6970C>A
7228C>T
7246C>T
7903C>T
7933C>T
7936G>T
8032G>T
8059C>T
8200C>T
8311C>T
8401C>T
8431C>T
8488C>T
8521C>A
8665G>T
8721C>G
8743C>T
9805C>T
9829C>T
9931C>T
9961C>T
10090C>T
10135C>T
10192A>G
10499G>T
10738C>T
10750C>T
10841C>G
10966C>T
11047C>T
11119C>T
11149C>T
C1471Y
W1473*
S1476C
Q1522R
C1526F
Q1545*
R1615*
A1718V
E1738*
E1742D
Q1755*
R1757*
Q1892*
R1903*
Y1944*
Q1949*
Q2004*
Q2044*
R2099*
G2213D
P2271S
P2324T
R2410*
Q2416*
R2635*
R2645*
E2646*
E2678*
R2687*
R2734*
R2771*
R2801*
Q2811*
R2830*
P2841T
G2889*
Y2907*
R2915*
Q3269*
Q3277*
Q3311*
R3321*
Q3364*
Q3379*
M3398V
G3500V
Q3580*
Q3584*
S3614*
R3656C
Q3683*
R3707*
Q3717*
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Hannibal (2011) Am J Med Genet A 155:1511
Micale (2011) Orphanet J Rare Dis 6:
Micale (2014) Hum Mutat 35:841
Micale (2011) Orphanet J Rare Dis 6:
Miyake (2013) Am J Med Genet A 161:2234
Miyake (2013) Am J Med Genet A 161:2234
Ng (2010) Nat Genet 42:790
Li (2011) Hum Genet 130:715
Micale (2014) Hum Mutat 35:841
Micale (2014) Hum Mutat 35:841
Schulz (2014) Hum Mol Genet 23:4396
Miyake (2013) Am J Med Genet A 161:2234
Micale (2014) Hum Mutat 35:841
Miyake (2013) Am J Med Genet A 161:2234
Hannibal (2011) Am J Med Genet A 155:1511
Subbarayan (2014) Am J Med Genet A 164:467
Ng (2010) Nat Genet 42:790
Makrythanasis (2013) Clin Genet :
Ng (2010) Nat Genet 42:790
Micale (2014) Hum Mutat 35:841
Micale (2014) Hum Mutat 35:841
Micale (2014) Hum Mutat 35:841
Hannibal (2011) Am J Med Genet A 155:1511
Micale (2011) Orphanet J Rare Dis 6:
Micale (2011) Orphanet J Rare Dis 6:
Paulussen (2011) Hum Mutat 32:E2018
Micale (2014) Hum Mutat 35:841
Makrythanasis (2013) Clin Genet :
Banka (2012) Eur J Hum Genet 20:381
Paulussen (2011) Hum Mutat 32:E2018
Paulussen (2011) Hum Mutat 32:E2018
Miyake (2013) Am J Med Genet A 161:2234
Li (2011) Hum Genet 130:715
Ng (2010) Nat Genet 42:790
Micale (2011) Orphanet J Rare Dis 6:
Hannibal (2011) Am J Med Genet A 155:1511
Hannibal (2011) Am J Med Genet A 155:1511
Li (2011) Hum Genet 130:715
Banka (2012) Eur J Hum Genet 20:381
Courcet (2013) J Pediatr epub:epub
Zarate (2012) Mol Syndromol 3:180
Ng (2010) Nat Genet 42:790
Miyake (2013) Am J Med Genet A 161:2234
Micale (2011) Orphanet J Rare Dis 6:
Micale (2014) Hum Mutat 35:841
Micale (2014) Hum Mutat 35:841
Ng (2010) Nat Genet 42:790
Micale (2014) Hum Mutat 35:841
Micale (2011) Orphanet J Rare Dis 6:
Micale (2014) Hum Mutat 35:841
Hannibal (2011) Am J Med Genet A 155:1511
Micale (2011) Orphanet J Rare Dis 6:
Ng (2010) Nat Genet 42:790
PubMed 21671394
PubMed 21658225
PubMed 24633898
PubMed 21658225
PubMed 23913813
PubMed 23913813
PubMed 20711175
PubMed 21607748
PubMed 24633898
PubMed 24633898
PubMed 24705355
PubMed 23913813
PubMed 24633898
PubMed 23913813
PubMed 21671394
PubMed 24311525
PubMed 20711175
PubMed 23320472
PubMed 20711175
PubMed 24633898
PubMed 24633898
PubMed 24633898
PubMed 21671394
PubMed 21658225
PubMed 21658225
PubMed 21280141
PubMed 24633898
PubMed 23320472
PubMed 22126750
PubMed 21280141
PubMed 21280141
PubMed 23913813
PubMed 21607748
PubMed 20711175
PubMed 21658225
PubMed 21671394
PubMed 21671394
PubMed 21607748
PubMed 22126750
PubMed 23535010
PubMed 23239960
PubMed 20711175
PubMed 23913813
PubMed 21658225
PubMed 24633898
PubMed 24633898
PubMed 20711175
PubMed 24633898
PubMed 21658225
PubMed 24633898
PubMed 21671394
PubMed 21658225
PubMed 20711175
www.ngpd.it
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
Elenco mutazioni NGPD
CM114120
CM1312965
CM114121
CM122098
CM122097
CM146827
CM111918
CM111919
CM1312966
CM138448
CM114915
CM146870
CM114911
CM146828
CM122100
CM138438
CM111920
CM138441
CM146871
CM114122
CM138452
CM105478
CM114123
CM146872
CM146873
CM1312967
CM122102
CM114913
CM105464
CM105477
CM1312968
CM146829
CM146830
CM140858
CM122136
CM114919
CM146874
CM114903
CM105479
CM111921
CM146831
CM105481
CM105485
CM114124
CM138451
CM122105
CM105476
CM138439
CM111922
CM146875
CM114914
CM146832
CM122109
CAG‐TAG
CAG‐TAG
CAG‐TAG
CAG‐TAG
CAG‐TAG
CAG‐TAG
CAG‐TAG
CAG‐TAG
CAG‐TAG
CAA‐TAA
CAG‐TAG
CAA‐GAA
CAA‐TAA
CAG‐TAG
CAG‐TAG
CAG‐TAG
CGA‐TGA
CAG‐TAG
AAG‐GAG
CAA‐TAA
CAA‐TAA
CAG‐TAG
CAG‐TAG
CGG‐CAG
CCC‐CTC
CAA‐TAA
CGA‐TGA
CAG‐TAG
CAG‐TAG
CAG‐TAG
CAG‐TAG
CGA‐TGA
AGA‐TGA
CAA‐TAA
CCG‐CTG
CAG‐TAG
CCT‐CTT
CAG‐TAG
CAG‐TAG
CGA‐TGA
CAG‐TAG
AAG‐TAG
CGA‐TGA
AAA‐TAA
CAG‐TAG
CAG‐TAG
CGA‐TGA
TCA‐TAA
CGA‐TGA
GCC‐ACC
TGG‐TGA
GAA‐TAA
CGA‐TGA
Gln3757Term
Gln3764Term
Gln3812Term
Gln3843Term
Gln3892Term
Gln3902Term
Gln3903Term
Gln3908Term
Gln3915Term
Gln3921Term
Gln3922Term
Gln3932Glu
Gln3941Term
Gln3957Term
Gln3963Term
Gln3973Term
Arg3982Term
Gln3988Term
Lys4024Glu
Gln4026Term
Gln4074Term
Gln4081Term
Gln4092Term
Arg4162Gln
Pro4163Leu
Gln4171Term
Arg4198Term
Gln4230Term
Gln4233Term
Gln4235Term
Gln4270Term
Arg4282Term
Arg4319Term
Gln4322Term
Pro4353Leu
Gln4401Term
Pro4419Leu
Gln4429Term
Gln4464Term
Arg4484Term
Gln4503Term
Lys4527Term
Arg4536Term
Lys4556Term
Gln4635Term
Gln4636Term
Arg4904Term
Ser4954Term
Arg4960Term
Ala4965Thr
Trp4982Term
Glu5008Term
Arg5021Term
11269C>T
11290C>T
11434C>T
11527C>T
11674C>T
11704C>T
11707C>T
11722C>T
11743C>T
11761C>T
11764C>T
11794C>G
11821C>T
11869C>T
11887C>T
11917C>T
11944C>T
11962C>T
12070A>G
12076C>T
12220C>T
12241C>T
12274C>T
12485G>A
12488C>T
12511C>T
12592C>T
12688C>T
12697C>T
12703C>T
12808C>T
12844C>T
12955A>T
12964C>T
13058C>T
13201C>T
13256C>T
13285C>T
13390C>T
13450C>T
13507C>T
13579A>T
13606C>T
13666A>T
13903C>T
13906C>T
14710C>T
14861C>A
14878C>T
14893G>A
14946G>A
15022G>T
15061C>T
Q3757*
Q3764*
Q3812*
Q3843*
Q3892*
Q3902*
Q3903*
Q3908*
Q3915*
Q3921*
Q3922*
Q3932E
Q3941*
Q3957*
Q3963*
Q3973*
R3982*
Q3988*
K4024E
Q4026*
Q4074*
Q4081*
Q4092*
R4162Q
P4163L
Q4171*
R4198*
Q4230*
Q4233*
Q4235*
Q4270*
R4282*
R4319*
Q4322*
P4353L
Q4401*
P4419L
Q4429*
Q4464*
R4484*
Q4503*
K4527*
R4536*
K4556*
Q4635*
Q4636*
R4904*
S4954*
R4960*
A4965T
W4982*
E5008*
R5021*
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Kabuki syndrome
Micale (2011) Orphanet J Rare Dis 6:
Makrythanasis (2013) Clin Genet :
Micale (2011) Orphanet J Rare Dis 6:
Banka (2012) Eur J Hum Genet 20:381
Banka (2012) Eur J Hum Genet 20:381
Micale (2014) Hum Mutat 35:841
Paulussen (2011) Hum Mutat 32:E2018
Paulussen (2011) Hum Mutat 32:E2018
Makrythanasis (2013) Clin Genet :
Miyake (2013) Am J Med Genet A 161:2234
Hannibal (2011) Am J Med Genet A 155:1511
Micale (2014) Hum Mutat 35:841
Hannibal (2011) Am J Med Genet A 155:1511
Micale (2014) Hum Mutat 35:841
Banka (2012) Eur J Hum Genet 20:381
Miyake (2013) Am J Med Genet A 161:2234
Paulussen (2011) Hum Mutat 32:E2018
Miyake (2013) Am J Med Genet A 161:2234
Micale (2014) Hum Mutat 35:841
Micale (2011) Orphanet J Rare Dis 6:
Miyake (2013) Am J Med Genet A 161:2234
Ng (2010) Nat Genet 42:790
Micale (2011) Orphanet J Rare Dis 6:
Micale (2014) Hum Mutat 35:841
Micale (2014) Hum Mutat 35:841
Makrythanasis (2013) Clin Genet :
Banka (2012) Eur J Hum Genet 20:381
Hannibal (2011) Am J Med Genet A 155:1511
Ng (2010) Nat Genet 42:790
Ng (2010) Nat Genet 42:790
Makrythanasis (2013) Clin Genet :
Micale (2014) Hum Mutat 35:841
Micale (2014) Hum Mutat 35:841
Subbarayan (2014) Am J Med Genet A 164:467
Banka (2012) Eur J Hum Genet 20:381
Hannibal (2011) Am J Med Genet A 155:1511
Micale (2014) Hum Mutat 35:841
Hannibal (2011) Am J Med Genet A 155:1511
Ng (2010) Nat Genet 42:790
Paulussen (2011) Hum Mutat 32:E2018
Micale (2014) Hum Mutat 35:841
Ng (2010) Nat Genet 42:790
Ng (2010) Nat Genet 42:790
Micale (2011) Orphanet J Rare Dis 6:
Miyake (2013) Am J Med Genet A 161:2234
Banka (2012) Eur J Hum Genet 20:381
Ng (2010) Nat Genet 42:790
Miyake (2013) Am J Med Genet A 161:2234
Paulussen (2011) Hum Mutat 32:E2018
Micale (2014) Hum Mutat 35:841
Hannibal (2011) Am J Med Genet A 155:1511
Micale (2014) Hum Mutat 35:841
Banka (2012) Eur J Hum Genet 20:381
PubMed 21658225
PubMed 23320472
PubMed 21658225
PubMed 22126750
PubMed 22126750
PubMed 24633898
PubMed 21280141
PubMed 21280141
PubMed 23320472
PubMed 23913813
PubMed 21671394
PubMed 24633898
PubMed 21671394
PubMed 24633898
PubMed 22126750
PubMed 23913813
PubMed 21280141
PubMed 23913813
PubMed 24633898
PubMed 21658225
PubMed 23913813
PubMed 20711175
PubMed 21658225
PubMed 24633898
PubMed 24633898
PubMed 23320472
PubMed 22126750
PubMed 21671394
PubMed 20711175
PubMed 20711175
PubMed 23320472
PubMed 24633898
PubMed 24633898
PubMed 24311525
PubMed 22126750
PubMed 21671394
PubMed 24633898
PubMed 21671394
PubMed 20711175
PubMed 21280141
PubMed 24633898
PubMed 20711175
PubMed 20711175
PubMed 21658225
PubMed 23913813
PubMed 22126750
PubMed 20711175
PubMed 23913813
PubMed 21280141
PubMed 24633898
PubMed 21671394
PubMed 24633898
PubMed 22126750
www.ngpd.it
Elenco mutazioni NGPD
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
KMT2D
CM111923
CM114150
CM138453
CM114151
CM138434
CM122140
CM114909
CM138442
CM114145
CM105462
CM105474
CM122110
CM146876
CM105471
CM114920
CM122111
CM119942
CM105472
CM138444
CM105466
CM111924
CM114916
CM105480
CM146877
CM126447
CM114146
CM105486
CM1111276
CM138443
CM146878
CM111926
CM126446
CM126448
CM114906
CM105484
CM141321
CM105488
CM146879
CM114910
CM1213197
CM119941
CM105482
CM146880
CGA‐TGA
GAC‐GAG
CGT‐TGT
TTC‐GTC
GAC‐GGC
GCC‐GTC
CGT‐TGT
CGT‐CAT
CAC‐CCC
TGG‐TGA
CAG‐TAG
CGA‐TGA
ACT‐CCT
TGC‐TTC
TAC‐TAA
TGT‐TGA
CGG‐CAG
CGT‐CAT
GGA‐AGA
TAT‐TAG
TAC‐TGC
CGC‐TGC
CGC‐CAC
TGG‐CGG
CGA‐TGA
CGA‐CAA
CGA‐CTA
CGA‐TGA
CGG‐CAG
GAG‐AAG
GGC‐GAC
CGG‐CAG
CGG‐TGG
CGA‐TGA
CGA‐TGA
GAT‐CAT
ACG‐ATG
AGG‐ATG
AGG‐ACG
TGT‐TAT
TCC‐TTC
CGA‐TGA
TAT‐GAT
Arg5027Term
Asp5028Glu
Arg5030Cys
Phe5034Val
Asp5040Gly
Ala5047Val
Arg5048Cys
Arg5048His
His5059Pro
Trp5065Term
Gln5073Term
Arg5086Term
Thr5098Pro
Cys5109Phe
Tyr5113Term
Cys5117Term
Arg5154Gln
Arg5179His
Gly5189Arg
Tyr5206Term
Tyr5210Cys
Arg5214Cys
Arg5214His
Trp5217Arg
Arg5282Term
Arg5340Gln
Arg5340Leu
Arg5340Term
Arg5351Gln
Glu5425Lys
Gly5428Asp
Arg5432Gln
Arg5432Trp
Arg5448Term
Arg5454Term
Asp5462His
Thr5464Met
Arg5471Met
Arg5471Thr
Cys5481Tyr
Ser5498Phe
Arg5501Term
Tyr5510Asp
15079C>T
15084C>G
15088C>T
15100T>G
15119A>G
15140C>T
15142C>T
15143G>A
15176A>C
15195G>A
15217C>T
15256C>T
15292A>C
15326G>T
15339C>A
15351T>A
15461G>A
15536G>A
15565G>A
15618T>G
15629A>G
15640C>T
15641G>A
15649T>C
15844C>T
16019G>A
16019G>T
16018C>T
16052G>A
16273G>A
16283G>A
16295G>A
16294C>T
16342C>T
16360C>T
16384G>C
16391C>T
16412G>T
16412G>C
16442G>A
16493C>T
16501C>T
16528T>G
R5027*
D5028E
R5030C
F5034V
D5040G
A5047V
R5048C
R5048H
H5059P
W5065*
Q5073*
R5086*
T5098P
C5109F
Y5113*
C5117*
R5154Q
R5179H
G5189R
Y5206*
Y5210C
R5214C
R5214H
W5217R
R5282*
R5340Q
R5340L
R5340*
R5351Q
E5425K
G5428D
R5432Q
R5432W
R5448*
R5454*
D5462H
T5464M
R5471M
R5471T
C5481Y
S5498F
R5501*
Y5510D
KRAS
CM076251
GGT‐AGT
Gly12Ser
34G>A
G12S
KRAS
CM070964
CAG‐GAG
Gln22Glu
64C>G
Q22E
KRAS
CM061081
CCA‐CGA
Pro34Arg
101C>G
P34R
KRAS
CM061080
GGT‐CGT
Gly60Arg
178G>C
G60R
KRAS
CM1111357
TAC‐CAC
Tyr71His
211T>C
Y71H
Kabuki syndrome
Paulussen (2011) Hum Mutat 32:E2018
Kabuki syndrome
Micale (2011) Orphanet J Rare Dis 6:
Kabuki syndrome
Miyake (2013) Am J Med Genet A 161:2234
Kabuki syndrome
Micale (2011) Orphanet J Rare Dis 6:
Kabuki syndrome
Miyake (2013) Am J Med Genet A 161:2234
Kabuki syndrome
Banka (2012) Eur J Hum Genet 20:381
Kabuki syndrome
Hannibal (2011) Am J Med Genet A 155:1511
Kabuki syndrome
Miyake (2013) Am J Med Genet A 161:2234
Kabuki syndrome
Micale (2011) Orphanet J Rare Dis 6:
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Banka (2012) Eur J Hum Genet 20:381
Kabuki syndrome
Micale (2014) Hum Mutat 35:841
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Hannibal (2011) Am J Med Genet A 155:1511
Kabuki syndrome
Banka (2012) Eur J Hum Genet 20:381
Kabuki syndrome
Li (2011) Hum Genet 130:715
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Miyake (2013) Am J Med Genet A 161:2234
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Paulussen (2011) Hum Mutat 32:E2018
Kabuki syndrome
Hannibal (2011) Am J Med Genet A 155:1511
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Micale (2014) Hum Mutat 35:841
Kabuki syndrome
Tanaka (2012) Am J Med Genet A 158A:2000
Kabuki syndrome
Micale (2011) Orphanet J Rare Dis 6:
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Paulussen (2011) Hum Mutat 32:E2018
Kabuki syndrome
Miyake (2013) Am J Med Genet A 161:2234
Kabuki syndrome
Micale (2014) Hum Mutat 35:841
Kabuki syndrome
Paulussen (2011) Hum Mutat 32:E2018
Kabuki syndrome
Kokitsu‐Nakata (2012) Am J Med Genet A 158A:2003
Kabuki syndrome
Tanaka (2012) Am J Med Genet A 158A:2000
Kabuki syndrome
Hannibal (2011) Am J Med Genet A 155:1511
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Giordano (2014) Ital J Pediatr 40:
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Micale (2014) Hum Mutat 35:841
Kabuki syndrome
Hannibal (2011) Am J Med Genet A 155:1511
Kabuki syndrome
Banka (2012) Eur J Hum Genet 20:381
Kabuki syndrome
Li (2011) Hum Genet 130:715
Kabuki syndrome
Ng (2010) Nat Genet 42:790
Kabuki syndrome
Micale (2014) Hum Mutat 35:841
Cardio‐facio‐cutaneous syndrome
Nava (2007) J Med Genet 44:763
Cardio‐facio‐cutaneous syndrome
Zenker (2007) J Med Genet 44:131
Cardio‐facio‐cutaneous syndrome
Schubbert (2006) Nat Genet 38:331
Cardio‐facio‐cutaneous syndrome
Niihori (2006) Nat Genet 38:294
Cardio‐facio‐cutaneous syndrome
Stark (2012) Clin Genet 81:590
PubMed 21280141
PubMed 21658225
PubMed 23913813
PubMed 21658225
PubMed 23913813
PubMed 22126750
PubMed 21671394
PubMed 23913813
PubMed 21658225
PubMed 20711175
PubMed 20711175
PubMed 22126750
PubMed 24633898
PubMed 20711175
PubMed 21671394
PubMed 22126750
PubMed 21607748
PubMed 20711175
PubMed 23913813
PubMed 20711175
PubMed 21280141
PubMed 21671394
PubMed 20711175
PubMed 24633898
PubMed 22786791
PubMed 21658225
PubMed 20711175
PubMed 21280141
PubMed 23913813
PubMed 24633898
PubMed 21280141
PubMed 22740433
PubMed 22786791
PubMed 21671394
PubMed 20711175
PubMed 24460868
PubMed 20711175
PubMed 24633898
PubMed 21671394
PubMed 22126750
PubMed 21607748
PubMed 20711175
PubMed 24633898
PubMed 17704260
PubMed 17056636
PubMed 16474405
PubMed 16474404
PubMed 21797849
www.ngpd.it
Elenco mutazioni NGPD
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
KRAS
CM1111358
CM061082
CM070966
CM106704
CM070967
CM070968
CM070965
CM061079
CM092327
CM1313466
CM123160
CM121363
CM061830
CM061083
CM070969
CM070970
AAG‐GAG
GTA‐ATA
CAG‐CGG
AAT‐ATT
CCA‐CAA
CCA‐CTA
ATA‐ATG
ACA‐ATA
GGT‐AGT
GGT‐GTT
ATG‐CTG
AAT‐AGT
GTT‐GGT
GAT‐GTT
TTC‐ATC
TTC‐TTG
Lys147Glu
Val14Ile
Gln22Arg
Asn26Ile
Pro34Gln
Pro34Leu
Ile36Met
Thr58Ile
Gly60Ser
Gly60Val
Met72Leu
Asn116Ser
Val152Gly
Asp153Val
Phe156Ile
Phe156Leu
439A>G
40G>A
65A>G
77A>T
101C>A
101C>T
108A>G
173C>T
178G>A
179G>T
214A>C
347A>G
455T>G
458A>T
466T>A
468C>G
K147E
V14I
Q22R
N26I
P34Q
P34L
I36M
T58I
G60S
G60V
M72L
N116S
V152G
D153V
F156I
F156L
KRT5
CM960910
CCG‐CTG
Pro25Leu
74C>T
P25L
KRT5
CM102466
GTC‐GCC
Val143Ala
428T>C
V143A
KRT5
CM100532
GTC‐TTC
Val143Phe
427G>T
V143F
KRT5
CM111798
CTC‐CCC
Leu149Pro
446T>C
L149P
KRT5
CM111799
ACT‐CCT
Thr151Pro
451A>C
T151P
KRT5
CM132463
GAG‐GAC
Glu168Asp
504G>C
E168D
KRT5
CM062805
GAG‐AAG
Glu168Lys
502G>A
E168K
KRT5
CM133509
CGC‐GGC
Arg169Gly
505C>G
R169G
KRT5
CM062803
CGC‐CCC
Arg169Pro
506G>C
R169P
KRT5
CM070978
GAG‐GGG
Glu170Gly
509A>G
E170G
KRT5
CM103082
ATC‐GTC
Ile172Val
514A>G
I172V
KRT5
CM111800
GCC‐CCC
Ala180Pro
538G>C
A180P
KRT5
CM1211228
ATC‐ACC
Ile183Thr
548T>C
I183T
KRT5
CM116809
GTG‐GAG
Val186Glu
557T>A
V186E
KRT5
CM092923
GTG‐CTG
Val186Leu
556G>C
V186L
KRT5
CM111801
CGG‐CCG
Arg187Pro
560G>C
R187P
KRT5
CM062806
GAG‐AAG
Glu190Lys
568G>A
E190K
KRT5
CM062800
CAG‐CCG
Gln191Pro
572A>C
Q191P
KRT5
CM061085
AAG‐AGG
Lys199Arg
596A>G
K199R
KRT5
CM119013
AAG‐AAC
Lys199Asn
597G>C
K199N
Cardio‐facio‐cutaneous syndrome
Stark (2012) Clin Genet 81:590
Noonan syndrome
Schubbert (2006) Nat Genet 38:331
Noonan syndrome
Zenker (2007) J Med Genet 44:131
Noonan syndrome
Leventopoulos (2010) Clin Exp Rheumatol 28:556
Noonan syndrome
Zenker (2007) J Med Genet 44:131
Noonan syndrome
Zenker (2007) J Med Genet 44:131
Noonan syndrome
Zenker (2007) J Med Genet 44:131
Noonan syndrome
Schubbert (2006) Nat Genet 38:331
Noonan syndrome
Kratz (2009) Am J Med Genet A 149A:1036
Noonan syndrome
Nosan (2013) Croat Med J 54:574
Noonan syndrome
Brasil (2012) Am J Med Genet A 158A:1178
Noonan syndrome
Razzaque (2012) Am J Med Genet A 158A:524
Noonan syndrome
Carta (2006) Am J Hum Genet 79:129
Noonan syndrome
Schubbert (2006) Nat Genet 38:331
Noonan syndrome
Zenker (2007) J Med Genet 44:131
Noonan syndrome
Zenker (2007) J Med Genet 44:131
Epidermolysis bullosa simplex
Uttam (1996) Proc Natl Acad Sci U S A 93:9079
Epidermolysis bullosa simplex
Jerábková (2010) Br J Dermatol 162:1004
Epidermolysis bullosa simplex
Kang (2010) J Dermatol Sci 57:90
Epidermolysis bullosa simplex
Bolling (2011) Br J Dermatol 164:637
Epidermolysis bullosa simplex
Bolling (2011) Br J Dermatol 164:637
Epidermolysis bullosa simplex
Shinkuma (2013) Acta Derm Venereol epub:epub
Epidermolysis bullosa simplex
Muller (2006) Hum Mutat 27:719
Epidermolysis bullosa simplex
Uchiyama (2013) Eur J Dermatol 23:267
Epidermolysis bullosa simplex
Muller (2006) Hum Mutat 27:719
Epidermolysis bullosa simplex
Rugg (2007) J Invest Dermatol 127:574
Epidermolysis bullosa simplex
Arin (2010) Br J Dermatol :
Epidermolysis bullosa simplex
Bolling (2011) Br J Dermatol 164:637
Epidermolysis bullosa simplex
Padalon‐Brauch (2012) J Invest Dermatol 132:2852
Epidermolysis bullosa simplex
García (2011) Br J Dermatol 165:683
Epidermolysis bullosa simplex
Roth (2009) Hum Mutat 30:832
Epidermolysis bullosa simplex
Bolling (2011) Br J Dermatol 164:637
Epidermolysis bullosa simplex
Muller (2006) Hum Mutat 27:719
Epidermolysis bullosa simplex
Yasukawa (2006) Br J Dermatol 155:313
Epidermolysis bullosa simplex
Abu Sa'd (2006) J Invest Dermatol 126:777
Epidermolysis bullosa simplex
Deng (2011) J Dermatol Sci 64:241
PubMed 21797849
PubMed 16474405
PubMed 17056636
PubMed 20810036
PubMed 17056636
PubMed 17056636
PubMed 17056636
PubMed 16474405
PubMed 19396835
PubMed 24382853
PubMed 22488932
PubMed 22302539
PubMed 16773572
PubMed 16474405
PubMed 17056636
PubMed 17056636
PubMed 8799157
PubMed 20030639
PubMed 20060687
PubMed 21375516
PubMed 21375516
PubMed 23450297
PubMed 16786515
PubMed 23588208
PubMed 16786515
PubMed 17039244
PubMed 20199538
PubMed 21375516
PubMed 22832485
PubMed 21623745
PubMed 19267394
PubMed 21375516
PubMed 16786515
PubMed 16882168
PubMed 16439963
PubMed 22005030
www.ngpd.it
Elenco mutazioni NGPD
KRT5
CM102041
AAG‐ATG
Lys199Met
596A>T
K199M
KRT5
CM100533
CGT‐CCT
Arg265Pro
794G>C
R265P
KRT5
CM116810
ACC‐CCC
Thr321Pro
961A>C
T321P
KRT5
CM111802
GTG‐GGG
Val323Gly
968T>G
V323G
KRT5
CM070977
AAC‐AGC
Asn329Ser
986A>G
N329S
KRT5
CM062802
CGC‐CAC
Arg331His
992G>A
R331H
KRT5
CM103083
CGC‐AGC
Arg331Ser
991C>A
R331S
KRT5
CM062801
CGC‐TGC
Arg352Cys
1054C>T
R352C
KRT5
CM092925
CAG‐TAG
Gln411Term
1231C>T
Q411*
KRT5
CM092924
GCC‐GAC
Ala417Asp
1250C>A
A417D
KRT5
CM125951
GCC‐CCC
Ala424Pro
1270G>C
A424P
KRT5
CM116811
GCC‐ACC
Ala428Thr
1282G>A
A428T
KRT5
CM070980
GCC‐GTC
Ala428Val
1283C>T
A428V
KRT5
CM111803
AAG‐AAC
Lys443Asn
1329G>C
K443N
KRT5
CM1310983
AAG‐GAG
Lys443Glu
1327A>G
K443E
KRT5
CM070979
ATC‐CTC
Ile467Leu
1399A>C
I467L
KRT5
CM111804
ATC‐ATG
Ile467Met
1401C>G
I467M
KRT5
CM062799
ACT‐CCT
Thr469Pro
1405A>C
T469P
KRT5
CM1310984
TAC‐CAC
Tyr470His
1408T>C
Y470H
KRT5
CM103084
CGC‐TGC
Arg471Cys
1411C>T
R471C
KRT5
CM141657
CGC‐CAC
Arg471His
1412G>A
R471H
KRT5
CM061086
GGC‐GAC
Gly476Asp
1427G>A
G476D
KRT5
CM103085
AGA‐GGA
Arg480Gly
1438A>G
R480G
KRT5
CM103086
CTC‐ATC
Leu546Ile
1636C>A
L546I
KRT5
CM121638
CGA‐TGA
Arg559Term
1675C>T
R559*
KRT5
CM097899
TTT‐TAT
Phe577Tyr
1730T>A
F577Y
Epidermolysis bullosa simplex
Flohil (2010) Eur J Dermatol 20:27
Epidermolysis bullosa simplex
Kang (2010) J Dermatol Sci :
Epidermolysis bullosa simplex
García (2011) Br J Dermatol 165:683
Epidermolysis bullosa simplex
Bolling (2011) Br J Dermatol 164:637
Epidermolysis bullosa simplex
Rugg (2007) J Invest Dermatol 127:574
Epidermolysis bullosa simplex
Muller (2006) Hum Mutat 27:719
Epidermolysis bullosa simplex
Arin (2010) Br J Dermatol :
Epidermolysis bullosa simplex
Yasukawa (2006) Br J Dermatol 155:313
Epidermolysis bullosa simplex
Roth (2009) Hum Mutat 30:832
Epidermolysis bullosa simplex
Roth (2009) Hum Mutat 30:832
Epidermolysis bullosa simplex
Lev‐Tov (2012) Dermatol Online J 18:1
Epidermolysis bullosa simplex
García (2011) Br J Dermatol 165:683
Epidermolysis bullosa simplex
Rugg (2007) J Invest Dermatol 127:574
Epidermolysis bullosa simplex
Bolling (2011) Br J Dermatol 164:637
Epidermolysis bullosa simplex
Minakawa (2013) J Dermatol Sci 72:330
Epidermolysis bullosa simplex
Rugg (2007) J Invest Dermatol 127:574
Epidermolysis bullosa simplex
Bolling (2011) Br J Dermatol 164:637
Epidermolysis bullosa simplex
Muller (2006) Hum Mutat 27:719
Epidermolysis bullosa simplex
Minakawa (2013) J Dermatol Sci 72:330
Epidermolysis bullosa simplex
Arin (2010) Br J Dermatol :
Epidermolysis bullosa simplex
Wertheim‐Tysarowska (2014) Br J Dermatol 170:468
Epidermolysis bullosa simplex
Abu Sa'd (2006) J Invest Dermatol 126:777
Epidermolysis bullosa simplex
Arin (2010) Br J Dermatol :
Epidermolysis bullosa simplex
Arin (2010) Br J Dermatol :
Epidermolysis bullosa simplex
Bchetnia (2012) Hum Genet 131:393
Epidermolysis bullosa simplex
Tang (2009) Clin Exp Dermatol 34:e957
Schumann (2012) Br J Dermatol 167:929
PubMed 22639907
Yuan (2008) J Eur Acad Dermatol Venereol 22:1510
PubMed 18384561
KRT5
CM128619
GAG‐GAC
Glu477Asp
1431G>C
E477D
Epidermolysis bullosa simplex, with verrucous carcinoma
KRT5
CM087220
AGG‐AGT
Arg165Ser
495G>T
R165S
Epidermolysis bullosa, Dowling‐Meara
PubMed 19797037
PubMed 20060687
PubMed 21623745
PubMed 21375516
PubMed 17039244
PubMed 16786515
PubMed 20199538
PubMed 16882168
PubMed 19267394
PubMed 19267394
PubMed 22747925
PubMed 21623745
PubMed 17039244
PubMed 21375516
PubMed 23993914
PubMed 17039244
PubMed 21375516
PubMed 16786515
PubMed 23993914
PubMed 20199538
PubMed 24024749
PubMed 16439963
PubMed 20199538
PubMed 20199538
PubMed 21877134
PubMed 20055872
www.ngpd.it
Elenco mutazioni NGPD
KRT5
CM036076
GAG‐GAT
Glu168Asp
504G>T
E168D
Epidermolysis bullosa, Dowling‐Meara
Trisnowati (2003) J Invest Dermatol 121:A1278
PubMed: No PubMed ID
KRT5
CM960911
CTC‐TTC
Leu175Phe
523C>T
L175F
Epidermolysis bullosa, Dowling‐Meara
Nomura (1996) J Invest Dermatol 107:253
PubMed 8757772
KRT5
CM970846
AAC‐AGC
Asn176Ser
527A>G
N176S
Epidermolysis bullosa, Dowling‐Meara
Stephens (1997) J Invest Dermatol 108:349
PubMed 9036937
KRT5
CM970847
TTT‐TCT
Phe179Ser
536T>C
F179S
Epidermolysis bullosa, Dowling‐Meara
Stephens (1997) J Invest Dermatol 108:349
PubMed 9036937
KRT5
CM055347
GCC‐GAC
Ala180Asp
539C>A
A180D
Epidermolysis bullosa, Dowling‐Meara
Hamada (2005) Arch Dermatol Res 296:577
PubMed 15827748
KRT5
CM004197
TCC‐CCC
Ser181Pro
541T>C
S181P
Epidermolysis bullosa, Dowling‐Meara
Shemanko (2000) Br J Dermatol 142:315
PubMed 10730767
KRT5
CM031233
ATC‐TTC
Ile183Phe
547A>T
I183F
Epidermolysis bullosa, Dowling‐Meara
Pfendner (2003) Prenat Diagn 23:447
PubMed 12813757
KRT5
CM970848
ATC‐ACC
Ile467Thr
1400T>C
I467T
Epidermolysis bullosa, Dowling‐Meara
Irvine (1997) J Invest Dermatol 109:815
PubMed 9406827
KRT5
CM015022
AAG‐TAG
Lys472Term
1414A>T
K472*
Epidermolysis bullosa, Dowling‐Meara
Livingston (2001) J Invest Dermatol 116:970
PubMed 11407989
KRT5
CM920398
GAG‐GGG
Glu475Gly
1424A>G
E475G
Epidermolysis bullosa, Dowling‐Meara
Lane (1992) Nature 356:244
PubMed 1372711
KRT5
CM030898
GAG‐AAG
Glu475Lys
1423G>A
E475K
Epidermolysis bullosa, Dowling‐Meara
Schuilenga‐Hut (2003) Hum Mutat 21:447
PubMed 12655565
KRT5
CM970849
GAG‐AAG
Glu477Lys
1429G>A
E477K
Epidermolysis bullosa, Dowling‐Meara
Stephens (1997) J Invest Dermatol 108:349
PubMed 9036937
KRT5
CM990781
GAG‐TAG
Glu477Term
1429G>T
E477*
Epidermolysis bullosa, Dowling‐Meara
Muller (1999) J Invest Dermatol 112:988
PubMed 10383750
KRT5
CM095415
GAA‐AAA
Glu478Lys
1432G>A
E478K
Sugiyama‐Fukamatsu (2009) J Dermatol 36:447
PubMed 19691749
KRT5
CM062809
GTC‐GAC
Val143Asp
428T>A
V143D
Yasukawa (2006) Br J Dermatol 155:313
PubMed 16882168
KRT5
CM076252
CTG‐CCG
Leu150Pro
449T>C
L150P
Oh (2007) J Dermatol Sci 48:229
PubMed 17855059
KRT5
CM021625
GAG‐AAG
Glu170Lys
508G>A
E170K
Yakasura (2002) J Biol Chem 277:23670
PubMed 11973334
KRT5
CM950729
AAG‐AAC
Lys173Asn
519G>C
K173N
Stephens (1995) Am J Hum Genet 56:577
PubMed 7534039
KRT5
CM012145
GTG‐TTG
Val186Leu
556G>T
V186L
Liovic (2001) J Invest Dermatol 116:964
PubMed 11407988
KRT5
CM062808
GTG‐ATG
Val186Met
556G>A
V186M
Yasukawa (2006) Br J Dermatol 155:313
PubMed 16882168
KRT5
CM981144
GTG‐GCG
Val323Ala
968T>C
V323A
Galligan (1998) J Invest Dermatol 111:524
PubMed 9740251
KRT5
CM990780
CTC‐CCC
Leu325Pro
974T>C
L325P
Sorensen (1999) J Invest Dermatol 112:184
PubMed 9989794
KRT5
CM021626
GAG‐AAG
Glu418Lys
1252G>A
E418K
Yakasura (2002) J Biol Chem 277:23670
PubMed 11973334
Epidermolysis bullosa, Dowling‐Meara
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
www.ngpd.it
Elenco mutazioni NGPD
KRT5
CM930460
CTG‐CCG
Leu463Pro
1388T>C
L463P
KRT5
CM076253
GAG‐GAC
Glu466Asp
1398G>C
E466D
KRT5
CM062807
GGC‐GAC
Gly517Asp
1550G>A
G517D
KRT5
CM076254
GGA‐GAA
Gly138Glu
413G>A
G138E
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, modifier of
KRT5
CM981143
CCC‐CTC
Pro152Leu
455C>T
P152L
KRT5
CM062804
GAC‐GTC
Asp158Val
473A>T
KRT5
CM983875
ATC‐AAC
Ile161Asn
KRT5
CM930458
ATC‐AGC
KRT5
CM031232
KRT5
Dong (1993) Hum Mutat 2:94
PubMed 7686424
Oh (2007) J Dermatol Sci 48:229
PubMed 17855059
Yasukawa (2006) Br J Dermatol 155:313
PubMed 16882168
Kowalewski (2007) Int J Mol Med 20:75
PubMed 17549391
Epidermolysis bullosa, Weber‐Cockayne
Muller (1998) J Invest Dermatol 111:900
PubMed 9804357
D158V
Epidermolysis bullosa, Weber‐Cockayne
Yasukawa (2006) Br J Dermatol 155:313
PubMed 16882168
482T>A
I161N
Epidermolysis bullosa, Weber‐Cockayne
Muller (1998) J Invest Dermatol 111:900
PubMed 9804357
Ile161Ser
482T>G
I161S
Epidermolysis bullosa, Weber‐Cockayne
Chan (1993) Proc Natl Acad Sci U S A 90:7414
PubMed 7688477
GAG‐AAG
Glu167Lys
499G>A
E167K
Epidermolysis bullosa, Weber‐Cockayne
Ciubotaru (2003) Arch Dermatol 139:498
PubMed 12707098
CM041386
AAT‐AGT
Asn177Ser
530A>G
N177S
Epidermolysis bullosa, Weber‐Cockayne
Liovic (2004) Exp Dermatol 13:332
PubMed 15140024
KRT5
CM045866
ATC‐ATG
Ile183Met
549C>G
I183M
Epidermolysis bullosa, Weber‐Cockayne
Han (2004) Br J Dermatol 150:819
PubMed 15099398
KRT5
CM090571
ATC‐GTC
Ile183Val
547A>G
I183V
Epidermolysis bullosa, Weber‐Cockayne
Glasz‐Bona (2009) J Invest Dermatol 129:229
PubMed 18704110
KRT5
CM090572
GAG‐GAC
Glu190Asp
570G>C
E190D
Epidermolysis bullosa, Weber‐Cockayne
Glasz‐Bona (2009) J Invest Dermatol 129:229
PubMed 18704110
KRT5
CM960912
AAC‐AAG
Asn193Lys
579C>G
N193K
Epidermolysis bullosa, Weber‐Cockayne
Humphries (1996) Hum Mutat 8:57
PubMed 8807337
KRT5
CM045865
ACC‐AGC
Thr198Ser
593C>G
T198S
Epidermolysis bullosa, Weber‐Cockayne
Han (2004) Br J Dermatol 150:819
PubMed 15099398
KRT5
CM042071
AAG‐ACG
Lys199Thr
596A>C
K199T
Epidermolysis bullosa, Weber‐Cockayne
Xu (2004) Clin Exp Dermatol 29:74
PubMed 14723728
KRT5
CM031234
CTG‐CCG
Leu311Pro
932T>C
L311P
Epidermolysis bullosa, Weber‐Cockayne
Ciubotaru (2003) Arch Dermatol 139:498
PubMed 12707098
KRT5
CM085986
GTC‐GCC
Val324Ala
971T>C
V324A
Epidermolysis bullosa, Weber‐Cockayne
Chiang (2008) Br J Dermatol 159:1370
PubMed 18764844
KRT5
CM031235
GTC‐GAC
Val324Asp
971T>A
V324D
Epidermolysis bullosa, Weber‐Cockayne
Ciubotaru (2003) Arch Dermatol 139:498
PubMed 12707098
KRT5
CM981145
ATG‐AAG
Met327Lys
980T>A
M327K
Epidermolysis bullosa, Weber‐Cockayne
Muller (1998) J Invest Dermatol 111:900
PubMed 9804357
KRT5
CM941019
ATG‐ACG
Met327Thr
980T>C
M327T
Epidermolysis bullosa, Weber‐Cockayne
Chan (1994) J Cell Sci 107:765
PubMed 7520042
www.ngpd.it
Elenco mutazioni NGPD
KRT5
CM000723
GAC‐GAA
Asp328Glu
984C>A
D328E
Epidermolysis bullosa, Weber‐Cockayne
Liovic (2000) Hum Hered 50:234
PubMed 10782015
KRT5
CM042374
GAC‐GGC
Asp328Gly
983A>G
D328G
Epidermolysis bullosa, Weber‐Cockayne
Li (2004) Clin Exp Dermatol 29:539
PubMed 15347343
KRT5
CM981146
GAC‐CAC
Asp328His
982G>C
D328H
Epidermolysis bullosa, Weber‐Cockayne
Muller (1998) J Invest Dermatol 111:900
PubMed 9804357
KRT5
CM950730
GAC‐GTC
Asp328Val
983A>T
D328V
Epidermolysis bullosa, Weber‐Cockayne
Matsuki (1995) Hum Mol Genet 4:1999
PubMed 8595431
KRT5
CM941020
AAC‐AAA
Asn329Lys
987C>A
N329K
Epidermolysis bullosa, Weber‐Cockayne
Chan (1994) J Cell Sci 107:765
PubMed 7520042
KRT5
CM930459
CGC‐TGC
Arg331Cys
991C>T
R331C
Epidermolysis bullosa, Weber‐Cockayne
Rugg (1993) Nat Genet 5:294
PubMed 7506097
KRT5
CM045867
CGC‐GGC
Arg331Gly
991C>G
R331G
Epidermolysis bullosa, Weber‐Cockayne
Han (2004) Br J Dermatol 150:819
PubMed 15099398
KRT5
CM030896
AAG‐GAG
Lys404Glu
1210A>G
K404E
Epidermolysis bullosa, Weber‐Cockayne
Schuilenga‐Hut (2003) Hum Mutat 21:447
PubMed 12655565
KRT5
CM030897
GCC‐GAC
Ala438Asp
1313C>A
A438D
Schuilenga‐Hut (2003) Hum Mutat 21:447
PubMed 12655565
KRT14
CM147717
GCT‐ACT
Ala94Thr
280G>A
A94T
Zeng (2014) Int J Dermatol epub:epub
PubMed 25040198
KRT14
CM070973
AAG‐GAG
Lys116Glu
346A>G
K116E
Rugg (2007) J Invest Dermatol 127:574
PubMed 17039244
KRT14
CM116807
AAG‐TAG
Lys116Term
346A>T
K116*
García (2011) Br J Dermatol 165:683
PubMed 21623745
KRT14
CM092926
CTC‐GTC
Leu122Val
364C>G
L122V
Roth (2009) Hum Mutat 30:832
PubMed 19267394
KRT14
CM102463
TCC‐CCC
Ser128Pro
382T>C
S128P
Jerábková (2010) Br J Dermatol 162:1004
PubMed 20030639
KRT14
CM070976
TAC‐TGC
Tyr129Cys
386A>G
Y129C
Rugg (2007) J Invest Dermatol 127:574
PubMed 17039244
KRT14
CM070975
GTG‐GCG
Val133Ala
398T>C
V133A
Rugg (2007) J Invest Dermatol 127:574
PubMed 17039244
KRT14
CM070974
GTG‐CTG
Val133Leu
397G>C
V133L
Rugg (2007) J Invest Dermatol 127:574
PubMed 17039244
KRT14
CM055970
CGT‐TGT
Arg134Cys
400C>T
R134C
Indelman (2005) J Invest Dermatol 124:272
PubMed 15654986
KRT14
CM102464
CTG‐CCG
Leu136Pro
407T>C
L136P
Jerábková (2010) Br J Dermatol 162:1004
PubMed 20030639
KRT14
CM103089
AAC‐AGC
Asn140Ser
419A>G
N140S
Arin (2010) Br J Dermatol 162:1365
PubMed 20199538
KRT14
CM062797
CGC‐CCC
Arg211Pro
632G>C
R211P
Muller (2006) Hum Mutat 27:719
PubMed 16786515
KRT14
CM103090
GTC‐GAC
Val268Asp
803T>A
V268D
Arin (2010) Br J Dermatol 162:1365
PubMed 20199538
KRT14
CM1312921
GTG‐GCG
Val270Ala
809T>C
V270A
Ołdak (2013) Eur J Dermatol 23:404
PubMed 23774754
KRT14
CM070971
ATT‐ACT
Ile377Thr
1130T>C
I377T
Rugg (2007) J Invest Dermatol 127:574
PubMed 17039244
KRT14
CM103091
GAG‐AAG
Glu381Lys
1141G>A
E381K
Arin (2010) Br J Dermatol 162:1365
PubMed 20199538
KRT14
CM103092
CGC‐GGC
Arg388Gly
1162C>G
R388G
Arin (2010) Br J Dermatol 162:1365
PubMed 20199538
Epidermolysis bullosa, Weber‐Cockayne
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
www.ngpd.it
Elenco mutazioni NGPD
KRT14
CM103093
CGC‐CCC
Arg388Pro
1163G>C
R388P
KRT14
CM101643
GAG‐TAG
Glu392Term
1174G>T
E392*
KRT14
CM100534
CTG‐CCG
Leu401Pro
1202T>C
L401P
KRT14
CM103094
CAG‐TAG
Gln410Term
1228C>T
Q410*
KRT14
CM092927
ATC‐ATG
Ile412Met
1236C>G
I412M
KRT14
CM111806
ATC‐TTC
Ile412Phe
1234A>T
I412F
KRT14
CM1110649
GCC‐CCC
Ala413Pro
1237G>C
A413P
KRT14
CM062798
CGC‐CCC
Arg417Pro
1250G>C
R417P
KRT14
CM147366
CTG‐CAG
Leu418Gln
1253T>A
L418Q
KRT14
CM070972
CTG‐GTG
Leu418Val
1252C>G
L418V
KRT14
CM004859
CTG‐CAG
Leu419Gln
1256T>A
L419Q
KRT14
CM004860
GAG‐AAG
Glu422Lys
1264G>A
E422K
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
KRT14
CM981138
ATG‐ACG
Met119Thr
356T>C
M119T
KRT14
CM950720
CAG‐CGG
Gln120Arg
359A>G
KRT14
CM044651
AAT‐AAA
Asn123Lys
KRT14
CM990777
AAT‐AGT
KRT14
CM910248
KRT14
Arin (2010) Br J Dermatol 162:1365
PubMed 20199538
Baek (2010) Br J Dermatol 162:880
PubMed 20096008
Kang (2010) J Dermatol Sci 57:90
PubMed 20060687
Arin (2010) Br J Dermatol 162:1365
PubMed 20199538
Roth (2009) Hum Mutat 30:832
PubMed 19267394
Bolling (2011) Br J Dermatol 164:637
PubMed 21375516
Natsuga (2011) J Invest Dermatol 131:1869
PubMed 21593775
Muller (2006) Hum Mutat 27:719
PubMed 16786515
Jankowski (2014) Exp Dermatol epub:epub
PubMed 24981776
Rugg (2007) J Invest Dermatol 127:574
PubMed 17039244
Hut (2000) J Invest Dermatol 114:619
PubMed 10733662
Hut (2000) J Invest Dermatol 114:619
PubMed 10733662
Epidermolysis bullosa, Dowling‐Meara
Shemanko (1998) J Invest Dermatol 111:893
PubMed 9804355
Q120R
Epidermolysis bullosa, Dowling‐Meara
Chen (1995) J Invest Dermatol 105:629
PubMed 7561171
369T>A
N123K
Epidermolysis bullosa, Dowling‐Meara
Csikos (2004) Exp Dermatol 13:185
PubMed 14987259
Asn123Ser
368A>G
N123S
Epidermolysis bullosa, Dowling‐Meara
Sorensen (1999) J Invest Dermatol 112:184
PubMed 9989794
CGC‐TGC
Arg125Cys
373C>T
R125C
Epidermolysis bullosa, Dowling‐Meara
Coulombe (1991) Cell 66:1301
PubMed 1717157
CM044652
CGC‐GGC
Arg125Gly
373C>G
R125G
Epidermolysis bullosa, Dowling‐Meara
Csikos (2004) Exp Dermatol 13:185
PubMed 14987259
KRT14
CM910247
CGC‐CAC
Arg125His
374G>A
R125H
Epidermolysis bullosa, Dowling‐Meara
Coulombe (1991) Cell 66:1301
PubMed 1717157
KRT14
CM100400
CGC‐CTC
Arg125Leu
374G>T
R125L
Epidermolysis bullosa, Dowling‐Meara
Oldak (2010) J Dermatol Sci 57:69
PubMed 19854623
KRT14
CM034738
CGC‐CCC
Arg125Pro
374G>C
R125P
Epidermolysis bullosa, Dowling‐Meara
Morley (2003) Br J Dermatol 149:46
PubMed 12890194
KRT14
CM950721
CGC‐AGC
Arg125Ser
373C>A
R125S
Epidermolysis bullosa, Dowling‐Meara
Chen (1995) J Invest Dermatol 105:629
PubMed 7561171
KRT14
CM960909
TAC‐GAC
Tyr129Asp
385T>G
Y129D
Epidermolysis bullosa, Dowling‐Meara
Chan (1996) J Invest Dermatol 106:327
PubMed 8601736
KRT14
CM030894
CTG‐CCG
Leu130Pro
389T>C
L130P
Epidermolysis bullosa, Dowling‐Meara
Schuilenga‐Hut (2003) Hum Mutat 21:447
PubMed 12655565
www.ngpd.it
Elenco mutazioni NGPD
KRT14
CM055346
GTG‐ATG
Val133Met
397G>A
V133M
Epidermolysis bullosa, Dowling‐Meara
Hamada (2005) Arch Dermatol Res 296:577
PubMed 15827748
KRT14
CM090570
GAG‐AAG
Glu411Lys
1231G>A
E411K
Epidermolysis bullosa, Dowling‐Meara
Glasz‐Bona (2009) J Invest Dermatol 129:229
PubMed 18704110
KRT14
CM090568
ATC‐AAC
Ile412Asn
1235T>A
I412N
Epidermolysis bullosa, Dowling‐Meara
Glasz‐Bona (2009) J Invest Dermatol 129:229
PubMed 18704110
KRT14
CM001205
TAC‐CAC
Tyr415His
1243T>C
Y415H
Epidermolysis bullosa, Dowling‐Meara
Rugg (2000) Prenat Diagn 20:371
PubMed 10820403
KRT14
CM032005
CGC‐CCC
Arg416Pro
1247G>C
R416P
Wood (2003) J Invest Dermatol 120:495
PubMed 12603865
KRT14
CM013552
ATG‐GTG
Met119Val
355A>G
M119V
Cummins (2001) J Invest Dermatol 117:1103
PubMed 11710919
KRT14
CM941013
CTC‐TTC
Leu122Phe
364C>T
L122F
Yamanishi (1994) Hum Mol Genet 3:1171
PubMed 7526926
KRT14
CM001204
CGT‐CCT
Arg134Pro
401G>C
R134P
Rugg (2000) Prenat Diagn 20:371
PubMed 10820403
KRT14
CM990778
CTG‐CCG
Leu143Pro
428T>C
L143P
Sorensen (1999) J Invest Dermatol 112:184
PubMed 9989794
KRT14
CM022414
GCC‐GAC
Ala247Asp
740C>A
A247D
Premaratne (2002) Australas J Dermatol 43:28
PubMed 11869205
KRT14
CM930457
ATG‐AGG
Met272Arg
815T>G
M272R
Humphries (1993) Hum Mutat 2:37
PubMed 7682883
KRT14
HM050003
ATG‐ACG
Met272Thr
815T>C
M272T
Schneider (2005) Hum Genet 117:298
Source: Online submission
KRT14
CM981140
TGG‐TGA
Trp305Term
915G>A
W305*
Corden (1998) Hum Mutat 11:279
PubMed 9554744
KRT14
CM910249
CTG‐CCG
Leu384Pro
1151T>C
L384P
Bonfias (1991) Science 254:1202
PubMed 1720261
KRT14
CM031230
CAG‐TAG
Gln396Term
1186C>T
Q396*
Ciubotaru (2003) Arch Dermatol 139:498
PubMed 12707098
KRT14
CM023093
GAG‐TAG
Glu411Term
1231G>T
E411*
Gu (2002) J Dermatol 29:136
PubMed 11990248
KRT14
CM023636
GCC‐ACC
Ala413Thr
1237G>A
A413T
Epidermolysis bullosa, Dowling‐Meara
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Epidermolysis bullosa, Koebner
Chao (2002) J Formos Med Assoc 101:287
PubMed 12101866
KRT14
CM990776
AAG‐AAC
Lys116Asn
348G>C
K116N
Epidermolysis bullosa, Weber‐Cockayne
Sorensen (1999) J Invest Dermatol 112:184
PubMed 9989794
KRT14
CM950719
ATG‐ATA
Met119Ile
357G>A
M119I
Epidermolysis bullosa, Weber‐Cockayne
Chen (1995) J Invest Dermatol 105:629
PubMed 7561171
KRT14
CM044653
GTG‐TTG
Val133Leu
397G>T
V133L
Epidermolysis bullosa, Weber‐Cockayne
Csikos (2004) Exp Dermatol 13:185
PubMed 14987259
KRT14
CM090569
CTG‐CAG
Leu136Gln
407T>A
L136Q
Epidermolysis bullosa, Weber‐Cockayne
Glasz‐Bona (2009) J Invest Dermatol 129:229
PubMed 18704110
KRT14
CM930455
GAA‐GCA
Glu144Ala
431A>C
E144A
Epidermolysis bullosa, Weber‐Cockayne
Hovnanian (1993) Nat Genet 3:327
PubMed 7526933
KRT14
CM032004
CGT‐TGT
Arg148Cys
442C>T
R148C
Epidermolysis bullosa, Weber‐Cockayne
Wood (2003) J Invest Dermatol 120:495
PubMed 12603865
KRT14
CM941014
TAT‐TAA
Tyr204Term
612T>A
Y204*
Epidermolysis bullosa, Weber‐Cockayne
Chan (1994) Genes Dev 8:2574
PubMed 7525408
www.ngpd.it
Elenco mutazioni NGPD
KRT14
CM930456
GTG‐ATG
Val270Met
808G>A
V270M
Epidermolysis bullosa, Weber‐Cockayne
Rugg (1993) Nat Genet 5:294
PubMed 7506097
KRT14
CM981139
GAC‐GGC
Asp273Gly
818A>G
D273G
Epidermolysis bullosa, Weber‐Cockayne
Muller (1998) J Invest Dermatol 111:900
PubMed 9804357
KRT14
CM950722
GCT‐GAT
Ala274Asp
821C>A
A274D
Epidermolysis bullosa, Weber‐Cockayne
Chen (1995) J Invest Dermatol 105:629
PubMed 7561171
KRT14
CM950723
ATT‐AAT
Ile377Asn
1130T>A
I377N
Epidermolysis bullosa, Weber‐Cockayne
Chen (1995) J Invest Dermatol 105:629
PubMed 7561171
KRT14
CM950724
CGC‐TGC
Arg388Cys
1162C>T
R388C
Epidermolysis bullosa, Weber‐Cockayne
Chen (1995) J Invest Dermatol 105:629
PubMed 7561171
KRT14
CM031229
CGC‐CAC
Arg388His
1163G>A
R388H
Epidermolysis bullosa, Weber‐Cockayne
Ciubotaru (2003) Arch Dermatol 139:498
PubMed 12707098
KRT14
CM030895
CTG‐ATG
Leu408Met
1222C>A
L408M
Epidermolysis bullosa, Weber‐Cockayne
Schuilenga‐Hut (2003) Hum Mutat 21:447
PubMed 12655565
KRT14
CM031231
TAC‐TGC
Tyr415Cys
1244A>G
Y415C
Ciubotaru (2003) Arch Dermatol 139:498
PubMed 12707098
LEPRE1
CM086850
TCG‐TAG
Ser131Term
392C>A
S131*
Baldridge (2008) Hum Mutat 29:1435
PubMed 18566967
LEPRE1
CM091982
CGA‐TGA
Arg210Term
628C>T
R210*
Willaert (2009) J Med Genet 46:233
PubMed 19088120
LEPRE1
CM112374
CGA‐TGA
Arg214Term
640C>T
R214*
Bell (2011) Sci Transl Med 3:65ra4
PubMed 21228398
LEPRE1
CM086848
TAC‐TAA
Tyr255Term
765C>A
Y255*
Baldridge (2008) Hum Mutat 29:1435
PubMed 18566967
LEPRE1
CM086849
TAC‐TAG
Tyr311Term
933C>G
Y311*
Baldridge (2008) Hum Mutat 29:1435
PubMed 18566967
LEPRE1
CM091983
CGA‐TGA
Arg368Term
1102C>T
R368*
Willaert (2009) J Med Genet 46:233
PubMed 19088120
LEPRE1
CM123316
CTG‐CCG
Leu489Pro
1466T>C
L489P
Zhang (2012) J Bone Miner Metab 30:69
PubMed 21667357
LEPRE1
CM070981
TAC‐TAA
Tyr552Term
1656C>A
Y552*
Cabral (2007) Nat Genet 39:359
PubMed 17277775
LEPRE1
CM086851
CGA‐TGA
Arg681Term
2041C>T
R681*
Epidermolysis bullosa, Weber‐Cockayne
Osteogenesis imperfecta, autosomal recessive
Osteogenesis imperfecta, autosomal recessive
Osteogenesis imperfecta, autosomal recessive
Osteogenesis imperfecta, autosomal recessive
Osteogenesis imperfecta, autosomal recessive
Osteogenesis imperfecta, autosomal recessive
Osteogenesis imperfecta, autosomal recessive
Osteogenesis imperfecta, autosomal recessive
Osteogenesis imperfecta, autosomal recessive
Baldridge (2008) Hum Mutat 29:1435
PubMed 18566967
LMX1B
CM042376
TGC‐AGC
Cys56Ser
166T>A
C56S
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM042377
GAG‐TAG
Glu57Term
169G>T
E57*
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM992906
TGC‐CGC
Cys59Arg
175T>C
C59R
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM992905
TGC‐TCC
Cys59Ser
176G>C
C59S
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM024746
TGC‐TAC
Cys59Tyr
176G>A
C59Y
Nail patella syndrome
Bongers (2002) Pediatr Nephrol 17:703
PubMed 12215822
www.ngpd.it
Elenco mutazioni NGPD
LMX1B
CM042378
CAG‐TAG
Gln60Term
178C>T
Q60*
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM012778
CGA‐TGA
Arg70Term
208C>T
R70*
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM012779
TCG‐TAG
Ser74Term
221C>A
S74*
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM042379
TGG‐CGG
Trp76Arg
226T>C
W76R
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM042380
TGG‐TAG
Trp76Term
227G>A
W76*
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM992907
TGG‐TGA
Trp76Term
228G>A
W76*
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM012780
CAC‐AAC
His77Asn
229C>A
H77N
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM992908
CAC‐CAG
His77Gln
231C>G
H77Q
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM024747
CAC‐CTC
His77Leu
230A>T
H77L
Nail patella syndrome
Bongers (2002) Pediatr Nephrol 17:703
PubMed 12215822
LMX1B
CM992909
CAC‐TAC
His77Tyr
229C>T
H77Y
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM042381
GAG‐TAG
Glu78Term
232G>T
E78*
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM052894
GAG‐TAG
Glu79Term
235G>T
E79*
Nail patella syndrome
Bongers (2005) Eur J Hum Genet 13:935
PubMed 15928687
LMX1B
CM992910
TGT‐CGT
Cys80Arg
238T>C
C80R
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM052895
TGT‐AGT
Cys80Ser
238T>A
C80S
Nail patella syndrome
Bongers (2005) Eur J Hum Genet 13:935
PubMed 15928687
LMX1B
CM012781
TTG‐TGG
Leu81Trp
242T>G
L81W
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM981209
CAG‐TAG
Gln82Term
244C>T
Q82*
Nail patella syndrome
Vollrath (1998) Hum Mol Genet 7:1091
PubMed 9618165
LMX1B
CM012782
TGC‐CGC
Cys83Arg
247T>C
C83R
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM992912
TGC‐GGC
Cys83Gly
247T>G
C83G
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM012783
TGC‐TTC
Cys83Phe
248G>T
C83F
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM992911
TGC‐TAC
Cys83Tyr
248G>A
C83Y
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM992913
TGT‐CGT
Cys86Arg
256T>C
C86R
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM052896
TGT‐GGT
Cys86Gly
256T>G
C86G
Nail patella syndrome
Bongers (2005) Eur J Hum Genet 13:935
PubMed 15928687
LMX1B
CM992914
CAG‐TAG
Gln87Term
259C>T
Q87*
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM066117
CAA‐CCA
Gln88Pro
263A>C
Q88P
Nail patella syndrome
Mimiwati (2006) Br J Ophthalmol 90:1505
PubMed 16825280
LMX1B
HM070103
CTC‐TTC
Leu90Phe
268C>T
L90F
Nail patella syndrome
Al Balwi (2008) Hum Genet 123:109
Source: Online submission
LMX1B
HM080004
TGC‐TCC
Cys94Ser
281G>C
C94S
Nail patella syndrome
Lin (2008) Hum Genet 124:295
Source: Online submission
LMX1B
CM042382
TGC‐TGG
Cys94Trp
282C>G
C94W
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM012784
TGC‐TGG
Cys103Trp
309C>G
C103W
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM992915
GAC‐GGC
Asp106Gly
317A>G
D106G
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM992916
TAC‐TAG
Tyr107Term
321C>G
Y107*
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
www.ngpd.it
Elenco mutazioni NGPD
LMX1B
CM012785
CAA‐TAA
Gln108Term
322C>T
Q108*
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM012786
CAG‐TAG
Gln109Term
325C>T
Q109*
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM042383
TGC‐CGC
Cys115Arg
343T>C
C115R
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM981210
TGC‐TTC
Cys118Phe
353G>T
C118F
Nail patella syndrome
Vollrath (1998) Hum Mol Genet 7:1091
PubMed 9618165
LMX1B
CM992917
TGC‐TAC
Cys118Tyr
353G>A
C118Y
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM992918
TGC‐TGA
Cys134Term
402C>A
C134*
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM992919
TAC‐TAG
Tyr136Term
408C>G
Y136*
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM042384
CAC‐CGC
His137Arg
410A>G
H137R
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM092241
CAC‐CAA
His137Gln
411C>A
H137Q
Nail patella syndrome
Lee (2009) J Korean Med Sci 24S1:S82
PubMed 19194568
LMX1B
CM012787
CAC‐TAC
His137Tyr
409C>T
H137Y
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM104373
TGC‐TGG
Cys140Trp
420C>G
C140W
Nail patella syndrome
Marini (2010) Genet Med 12:431
PubMed 20531206
LMX1B
CM012788
TGC‐TAC
Cys140Tyr
419G>A
C140Y
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM992920
TGC‐TCC
Cys143Ser
428G>C
C143S
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM042385
TGC‐TAC
Cys143Tyr
428G>A
C143Y
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM992922
TGT‐TTT
Cys146Phe
437G>T
C146F
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM992921
TGT‐TAT
Cys146Tyr
437G>A
C146Y
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM042386
CGG‐CCG
Arg148Pro
443G>C
R148P
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM091609
CTA‐CCA
Leu150Pro
449T>C
L150P
Nail patella syndrome
Lee (2009) J Korean Med Sci 24S1:S82
PubMed 19194568
LMX1B
CM992923
CAG‐TAG
Gln162Term
484C>T
Q162*
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM981211
TGC‐TGG
Cys165Trp
495C>G
C165W
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM981212
TAC‐TAA
Tyr169Term
507C>A
Y169*
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM981213
CGA‐TGA
Arg221Term
661C>T
R221*
Nail patella syndrome
Dreyer (1998) Nat Genet 19:47
PubMed 9590287
LMX1B
CM981214
CGG‐CAG
Arg223Gln
668G>A
R223Q
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM104374
CGG‐GGG
Arg223Gly
667C>G
R223G
Nail patella syndrome
Marini (2010) Genet Med 12:431
PubMed 20531206
LMX1B
CM091610
CGG‐TGG
Arg223Trp
667C>T
R223W
Nail patella syndrome
Lee (2009) J Korean Med Sci 24S1:S82
PubMed 19194568
LMX1B
CM104375
CGA‐CCA
Arg231Pro
692G>C
R231P
Nail patella syndrome
Marini (2010) Genet Med 12:431
PubMed 20531206
LMX1B
CM981215
CGA‐TGA
Arg231Term
691C>T
R231*
Nail patella syndrome
Vollrath (1998) Hum Mol Genet 7:1091
PubMed 9618165
LMX1B
CM981216
GCC‐CCC
Ala236Pro
706G>C
A236P
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM981217
GAG‐TAG
Glu239Term
715G>T
E239*
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM981218
TCG‐CCG
Ser241Pro
721T>C
S241P
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
www.ngpd.it
Elenco mutazioni NGPD
LMX1B
CM992924
TCG‐TAG
Ser241Term
722C>A
S241*
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM042387
TCG‐TAG
Ser242Term
725C>A
S242*
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM981219
CGA‐TGA
Arg246Term
736C>T
R246*
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM042388
CGA‐GGA
Arg249Gly
745C>G
R249G
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM981220
CGA‐CCA
Arg249Pro
746G>C
R249P
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM981221
CGA‐TGA
Arg249Term
745C>T
R249*
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM992925
CTG‐CCG
Leu252Pro
755T>C
L252P
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM981222
GCA‐GTA
Ala253Val
758C>T
A253V
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM042389
ACG‐AGG
Thr256Arg
767C>G
T256R
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM042390
CTC‐TTC
Leu258Phe
772C>T
L258F
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM042391
CGC‐TGC
Arg261Cys
781C>T
R261C
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM1210013
CGC‐CAC
Arg261His
782G>A
R261H
Nail patella syndrome
Haras (2012) J Med Life 5:126
PubMed 22574102
LMX1B
CM042392
GTC‐GCC
Val263Ala
788T>C
V263A
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM024748
GTC‐GAC
Val263Asp
788T>A
V263D
Nail patella syndrome
Bongers (2002) Pediatr Nephrol 17:703
PubMed 12215822
LMX1B
CM992926
CAG‐TAG
Gln264Term
790C>T
Q264*
Nail patella syndrome
Clough (1999) Hum Mutat 14:459
PubMed 10571942
LMX1B
CM1314415
GTC‐GCC
Val265Ala
794T>C
V265A
Nail patella syndrome
Nair (2013) Clin Kidney J 6:305
PubMed: No PubMed ID
LMX1B
CM042393
GTC‐CTC
Val265Leu
793G>C
V265L
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM042394
GTC‐TTC
Val265Phe
793G>T
V265F
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM012789
TGG‐TGC
Trp266Cys
798G>C
W266C
Nail patella syndrome
Hamlington (2001) Hum Mutat 18:458
PubMed 11668639
LMX1B
CM136970
TGG‐TCG
Trp266Ser
797G>C
W266S
Nail patella syndrome
Alvarez‐Martín (2013) Nefrologia 33:585
PubMed 23897191
LMX1B
CM981223
TGG‐TAG
Trp266Term
797G>A
W266*
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM042395
TTT‐ATT
Phe267Ile
799T>A
F267I
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM042396
TTT‐CTT
Phe267Leu
799T>C
F267L
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM056353
CAG‐GAG
Gln268Glu
802C>G
Q268E
Nail patella syndrome
Szczaluba (2005) Med Wieku Rozwoj 9:195
PubMed 16085960
LMX1B
CM042397
CAG‐CAT
Gln268His
804G>T
Q268H
Nail patella syndrome
Dunston (2004) Genomics 84:565
PubMed 15498463
LMX1B
CM981224
CAG‐TAG
Gln268Term
802C>T
Q268*
Nail patella syndrome
McIntosh (1998) Am J Hum Genet 63:1651
PubMed 9837817
LMX1B
CM981225
AAC‐AAA
Asn269Lys
807C>A
N269K
Nail patella syndrome
Dreyer (1998) Nat Genet 19:47
PubMed 9590287
LMX1B
CM083541
AGA‐GGA
Arg271Gly
811A>G
R271G
Nail patella syndrome
Lin (2008) Bone 43:591
PubMed 18595794
LMX1B
CM004002
GCA‐CCA
Ala272Pro
814G>C
A272P
Knoers (2000) J Am Soc Nephrol 11:1762
PubMed 10966502
MAP2K1
CM092997
CTT‐TTT
Leu42Phe
124C>T
L42F
Nail patella syndrome
Cardio‐facio‐cutaneous syndrome
Dentici (2009) Eur J Hum Genet 17:733
PubMed 19156172
www.ngpd.it
Elenco mutazioni NGPD
MAP2K1
CM061105
TTT‐TCT
Phe53Ser
158T>C
F53S
MAP2K1
CM147586
GTG‐GGG
Val60Gly
179T>G
V60G
MAP2K1
CM076269
GAC‐AAC
Asp67Asn
199G>A
D67N
MAP2K1
CM073191
CCG‐CAG
Pro124Gln
371C>A
P124Q
MAP2K1
CM071852
CCG‐CTG
Pro124Leu
371C>T
P124L
MAP2K1
CM080433
GGC‐GTC
Gly128Val
383G>T
G128V
MAP2K1
CM086852
TAT‐AAT
Tyr130Asn
388T>A
Y130N
MAP2K1
CM061104
TAT‐TGT
Tyr130Cys
389A>G
Y130C
MAP2K1
CM092998
TAT‐CAT
Tyr130His
388T>C
Y130H
MAP2K1
MAP2K1
MAP2K1
MAP2K1
CM083720
CM076271
CM076270
CM137741
GAG‐CAG
ACC‐CCC
GAG‐GGG
GCA‐ACA
Glu203Gln
Thr55Pro
Glu44Gly
Ala347Thr
607G>C
163A>C
131A>G
1039G>A
E203Q
T55P
E44G
A347T
MAP2K2
CM061106
TTT‐TGT
Phe57Cys
170T>G
F57C
MAP2K2
CM086853
TTT‐ATT
Phe57Ile
169T>A
F57I
MAP2K2
CM083721
TTT‐TTA
Phe57Leu
171T>A
F57L
MAP2K2
CM080435
TTT‐GTT
Phe57Val
169T>G
F57V
MAP2K2
CM071855
AAA‐GAA
Lys61Glu
181A>G
K61E
MAP2K2
CM076272
AAA‐ACA
Lys61Thr
182A>C
K61T
MAP2K2
CM076273
GCC‐CCC
Ala62Pro
184G>C
A62P
MAP2K2
CM071854
CCG‐CGG
Pro128Arg
383C>G
P128R
MAP2K2
CM101871
CCG‐CAG
Pro128Gln
383C>A
P128Q
MAP2K2
CM112525
GGC‐GAC
Gly132Asp
395G>A
G132D
MAP2K2
CM071856
GGC‐GTC
Gly132Val
395G>T
G132V
MAP2K2
CM086854
TAC‐TGC
Tyr134Cys
401A>G
Y134C
MAP2K2
CM080434
TAC‐CAC
Tyr134His
400T>C
Y134H
MAP2K2
MCOLN1
MCOLN1
MCOLN1
MCOLN1
MCOLN1
MCOLN1
MCOLN1
MCOLN1
CM071853
CM055414
CM003596
CM026007
CM1111273
CM003597
CM011400
CM002428
CM003598
AAA‐AGA
CAG‐TAG
CGA‐TGA
CTG‐CCG
TGC‐TTC
CGA‐TGA
ACC‐CCC
CGA‐TGA
GAT‐TAT
Lys273Arg
Gln79Term
Arg102Term
Leu106Pro
Cys166Phe
Arg172Term
Thr232Pro
Arg322Term
Asp362Tyr
818A>G
235C>T
304C>T
317T>C
497G>T
514C>T
694A>C
964C>T
1084G>T
K273R
Q79*
R102*
L106P
C166F
R172*
T232P
R322*
D362Y
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Costello syndrome
Noonan syndrome
Noonan syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Rodriguez‐Viciana (2006) Science 311:1287
PubMed 16439621
Wong Ramsey (2014) Am J Med Genet A 164:2036
PubMed 24719372
Nava (2007) J Med Genet 44:763
PubMed 17704260
Gripp (2007) Am J Med Genet A 143A:1472
PubMed 17551924
Narumi (2007) Am J Med Genet A 143A:799
PubMed 17366577
Schulz (2008) Clin Genet 73:62
PubMed 18042262
Rodriguez‐Viciana (2008) Methods Enzymol 438:277
PubMed 18413255
Rodriguez‐Viciana (2006) Science 311:1287
PubMed 16439621
Dentici (2009) Eur J Hum Genet 17:733
PubMed 19156172
Nystrom (2008) J Med Genet 45:500
Nava (2007) J Med Genet 44:763
Nava (2007) J Med Genet 44:763
Croonen (2013) Eur J Hum Genet 21:936
PubMed 18456719
PubMed 17704260
PubMed 17704260
PubMed 23321623
Rodriguez‐Viciana (2006) Science 311:1287
PubMed 16439621
Rodriguez‐Viciana (2008) Methods Enzymol 438:277
PubMed 18413255
Nystrom (2008) J Med Genet 45:500
PubMed 18456719
Schulz (2008) Clin Genet 73:62
PubMed 18042262
Narumi (2007) Am J Med Genet A 143A:799
PubMed 17366577
Nava (2007) J Med Genet 44:763
PubMed 17704260
Nava (2007) J Med Genet 44:763
PubMed 17704260
Narumi (2007) Am J Med Genet A 143A:799
PubMed 17366577
Rauen (2010) Am J Med Genet A 152A:807
PubMed 20358587
Linden (2011) Clin Dysmorphol 20:86
PubMed 21178588
Narumi (2007) Am J Med Genet A 143A:799
PubMed 17366577
Rodriguez‐Viciana (2008) Methods Enzymol 438:277
PubMed 18413255
Schulz (2008) Clin Genet 73:62
PubMed 18042262
Narumi (2007) Am J Med Genet A 143A:799
Bach (2005) Hum Mutat 26:591
Sun (2000) Hum Mol Genet 9:2471
Altarescu (2002) Neurology 59:306
Wakabayashi (2011) Mol Genet Metab 104:206
Sun (2000) Hum Mol Genet 9:2471
Bargal (2001) Hum Mutat 17:397
Bargal (2000) Nat Genet 26:118
Sun (2000) Hum Mol Genet 9:2471
PubMed 17366577
PubMed 16287144
PubMed 11030752
PubMed 12182165
PubMed 21763169
PubMed 11030752
PubMed 11317355
PubMed 10973263
PubMed 11030752
www.ngpd.it
Elenco mutazioni NGPD
MCOLN1
MCOLN1
MCOLN1
MCOLN1
MCOLN1
MCOLN1
MCOLN1
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
CM043521
CM136848
CM003599
CM026008
CM096922
CM1111274
CM011401
CM058034
CM032595
CM060329
CM023409
HM971529
CM010332
CM057720
CM010333
CM110917
CM035705
CM055984
CM001222
CM014800
CM041798
CM022424
CM002055
CM000743
CM000744
CM010334
CM000745
CM023410
CGC‐TGC
TAC‐TGC
GTG‐TTG
CTG‐CCG
TCA‐TTA
TGC‐TAC
TTC‐TTG
ATG‐TTG
GAA‐CAA
GAA‐TAA
CAG‐TAG
CAG‐TAG
AAG‐TAG
CAG‐TAG
TCA‐TAA
CAC‐CAG
TCA‐TGA
TCA‐TGA
GAC‐GAA
GAC‐TAC
CTG‐CGG
CTG‐GTG
CCT‐CGT
CCT‐CAT
CCT‐CTT
CCT‐TCT
CCT‐ACT
TGG‐CGG
Arg403Cys
Tyr436Cys
Val446Leu
Leu447Pro
Ser456Leu
Cys463Tyr
Phe465Leu
Met1Leu
Glu10Gln
Glu10Term
Gln16Term
Gln19Term
Lys22Term
Gln47Term
Ser49Term
His51Gln
Ser65Term
Ser68Term
Asp97Glu
Asp97Tyr
Leu100Arg
Leu100Val
Pro101Arg
Pro101His
Pro101Leu
Pro101Ser
Pro101Thr
Trp104Arg
1207C>T
1307A>G
1336G>T
1340T>C
1367C>T
1388G>A
1395C>G
1A>T
28G>C
28G>T
46C>T
55C>T
64A>T
139C>T
146C>A
153C>G
194C>G
203C>G
291C>A
289G>T
299T>G
298C>G
302C>G
302C>A
302C>T
301C>T
301C>A
310T>C
R403C
Y436C
V446L
L447P
S456L
C463Y
F465L
M1L
E10Q
E10*
Q16*
Q19*
K22*
Q47*
S49*
H51Q
S65*
S68*
D97E
D97Y
L100R
L100V
P101R
P101H
P101L
P101S
P101T
W104R
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Mucolipidosis IV
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
CM076290
CM001223
CM023812
CM992175
CM071859
CM105545
CM010335
CM096400
CM091239
CM085533
CM014369
CM070195
CM002056
CM014897
HM060005
CM010918
CM032596
CM023411
CM070194
CM055983
CM992176
CM023813
CM003766
CM001224
TGG‐TAG
CGG‐CAG
CGG‐GGG
CGG‐TGG
CTT‐CAT
CAA‐TAA
AGG‐GGG
AAA‐TAA
TCT‐CCT
CGC‐TGC
TAT‐GAT
GTG‐ATG
TTG‐TTC
AAT‐AGT
AAT‐TAT
CCC‐CTC
CAG‐CCG
CAG‐TAG
GGA‐GTA
GCC‐GAC
CGC‐TGC
CGC‐GGC
CGC‐CAC
CGC‐CTC
Trp104Term
Arg106Gln
Arg106Gly
Arg106Trp
Leu108His
Gln110Term
Arg111Gly
Lys112Term
Ser113Pro
Arg115Cys
Tyr120Asp
Val122Met
Leu124Phe
Asn126Ser
Asn126Tyr
Pro127Leu
Gln128Pro
Gln128Term
Gly129Val
Ala131Asp
Arg133Cys
Arg133Gly
Arg133His
Arg133Leu
311G>A
317G>A
316C>G
316C>T
323T>A
328C>T
331A>G
334A>T
337T>C
343C>T
358T>G
364G>A
372G>C
377A>G
376A>T
380C>T
383A>C
382C>T
386G>T
392C>A
397C>T
397C>G
398G>A
398G>T
W104*
R106Q
R106G
R106W
L108H
Q110*
R111G
K112*
S113P
R115C
Y120D
V122M
L124F
N126S
N126Y
P127L
Q128P
Q128*
G129V
A131D
R133C
R133G
R133H
R133L
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Goldin (2004) Hum Mutat 24:460
Albakheet (2013) Gene 526:464
Sun (2000) Hum Mol Genet 9:2471
Altarescu (2002) Neurology 59:306
Tüysüz (2009) Brain Dev 31:702
Wakabayashi (2011) Mol Genet Metab 104:206
Bargal (2001) Hum Mutat 17:397
Gauthier (2005) Can J Neurol Sci 32:321
Smeets (2003) Am J Med Genet A 122A:227
Philippe (2006) Eur J Med Genet 49:9
RSRF (2002) MECP2 LSDB entry Unpublished:
Cook (2000) Hum Genet 106:258
Vacca (2001) J Mol Med 78:648
Charman (2005) Eur J Hum Genet 13:1121
Bourdon (2001) Hum Genet 108:43
Khajuria (2011) Brain Dev :
Friez (2003) MECP2 LSDB entry Unpublished:1732
Fukuda (2005) Brain Dev 27:211
Xiang (2000) J Med Genet 37:250
Hoffbuhr (2001) Neurology 56:1486
Schanen (2004) Am J Med Genet 126A:129
Chae (2002) J Child Neurol 17:33
Hampson (2000) J Med Genet 37:610
Cheadle (2000) Hum Mol Genet 9:1119
Cheadle (2000) Hum Mol Genet 9:1119
Vacca (2001) J Mol Med 78:648
Cheadle (2000) Hum Mol Genet 9:1119
RSRF (2002) MECP2 LSDB entry Unpublished:
No author given (2007) MECP2 LSDB entry Unpublished:2367
Bienvenu (2000) Hum Mol Genet 9:1377
Bienvenu (2002) Genet Test 6:1
Amir (1999) Nat Genet 23:185
Zahorakova (2007) J Hum Genet 52:342
Temudo (2011) Brain Dev 33:69
Laccone (2001) Hum Mutat 17:183
Lima (2009) Arq Neuropsiquiatr 67:577
Temudo (2009) Brain Dev 31:46
Bunyan (2008) Genet Test 12:373
Inui (2001) Brain Dev 23:212
Li (2007) J Hum Genet 52:38
Obata (2000) J Med Genet 37:608
Milunsky (2001) Genet Test 5:321
Conforti (2006) Hum Genet 119:676
Auranen (2001) Neurology 56:611
Smeets (2003) Am J Med Genet A 122A:227
Charman (2005) Eur J Hum Genet 13:1121
Li (2007) J Hum Genet 52:38
Fukuda (2005) Brain Dev 27:211
Amir (1999) Nat Genet 23:185
Bienvenu (2002) Genet Test 6:1
Dragich (2000) Hum Mol Genet 9:2365
De Bona (2000) Eur J Hum Genet 8:325
PubMed 15523648
PubMed 23685283
PubMed 11030752
PubMed 12182165
PubMed 19006653
PubMed 21763169
PubMed 11317355
PubMed 16225173
PubMed 12966523
PubMed 16473305
Source: LSDB
Source: Online submission
PubMed 11269512
PubMed 16077736
PubMed 11214906
PubMed 21300488
Source: LSDB
PubMed 15737703
PubMed 10745042
PubMed 11402105
PubMed 15057977
PubMed 11913567
PubMed 10991689
PubMed 10767337
PubMed 10767337
PubMed 11269512
PubMed 10767337
Source: LSDB
Source: LSDB
PubMed 10814719
PubMed 12180070
PubMed 10508514
PubMed 17387578
PubMed 20116947
PubMed 11241840
PubMed 19722030
PubMed 18572337
PubMed 18652533
PubMed 11376998
PubMed 17089071
PubMed 10991688
PubMed 11960578
Source: Online submission
PubMed 11245712
PubMed 12966523
PubMed 16077736
PubMed 17089071
PubMed 15737703
PubMed 10508514
PubMed 12180070
PubMed 11005791
PubMed 10854091
www.ngpd.it
Elenco mutazioni NGPD
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
CM014898
CM000746
CM055985
CM045298
CM010336
CM060330
CM003325
CM001225
CM003454
CM066123
CM023814
CM000747
CM023412
CM001226
CM992177
CM055982
CM001227
CM011798
CM078104
CM058035
CM078121
CM003455
CM010337
CM992178
CM023413
CM066124
CM010338
CM014899
CM993353
CM001228
CM135744
CM035703
CM023414
CGC‐CCC
TCT‐TGT
TCT‐TTT
TCT‐CCT
AAA‐GAA
TTG‐TAG
GCG‐GTG
TAC‐TAG
AAG‐TAG
GAC‐GAG
GAC‐GGC
CCT‐CGT
TTT‐TGT
TTT‐ATT
TTT‐TCT
GAC‐GCC
GAC‐GAA
GAC‐GGC
GAC‐CAC
TTC‐CTC
TTC‐TTA
TTC‐TTG
ACG‐GCG
ACG‐ATG
GGG‐AGG
GGG‐GAG
GGG‐TGG
GGG‐GTG
CGA‐TGA
CAG‐TAG
CCT‐CGT
AAG‐TAG
AAA‐TAA
Arg133Pro
Ser134Cys
Ser134Phe
Ser134Pro
Lys135Glu
Leu138Term
Ala140Val
Tyr141Term
Lys144Term
Asp151Glu
Asp151Gly
Pro152Arg
Phe155Cys
Phe155Ile
Phe155Ser
Asp156Ala
Asp156Glu
Asp156Gly
Asp156His
Phe157Leu
Phe157Leu
Phe157Leu
Thr158Ala
Thr158Met
Gly161Arg
Gly161Glu
Gly161Trp
Gly161Val
Arg168Term
Gln170Term
Pro173Arg
Lys175Term
Lys177Term
398G>C
401C>G
401C>T
400T>C
403A>G
413T>A
419C>T
423C>G
430A>T
453C>G
452A>G
455C>G
464T>G
463T>A
464T>C
467A>C
468C>A
467A>G
466G>C
469T>C
471C>A
471C>G
472A>G
473C>T
481G>A
482G>A
481G>T
482G>T
502C>T
508C>T
518C>G
523A>T
529A>T
R133P
S134C
S134F
S134P
K135E
L138*
A140V
Y141*
K144*
D151E
D151G
P152R
F155C
F155I
F155S
D156A
D156E
D156G
D156H
F157L
F157L
F157L
T158A
T158M
G161R
G161E
G161W
G161V
R168*
Q170*
P173R
K175*
K177*
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
CM113963
CM060326
CM1212523
CM023815
CM001229
CM030693
CM023816
CM003456
CM010339
CM010340
CM010341
CM000748
CM032953
CCC‐TCC
AAA‐TAA
AAA‐TAA
ACG‐ATG
AGA‐TGA
AAG‐TAG
GCG‐GTG
TCA‐TGA
GAG‐TAG
CAG‐TAG
AAA‐ATA
CCT‐CGT
CCT‐CTT
Pro179Ser
Lys180Term
Lys192Term
Thr197Met
Arg198Term
Lys200Term
Ala201Val
Ser204Term
Glu205Term
Gln208Term
Lys210Ile
Pro225Arg
Pro225Leu
535C>T
538A>T
574A>T
590C>T
592A>T
598A>T
602C>T
611C>G
613G>T
622C>T
629A>T
674C>G
674C>T
P179S
K180*
K192*
T197M
R198*
K200*
A201V
S204*
E205*
Q208*
K210I
P225R
P225L
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
MECP2
MECP2
MECP2
MECP2
MECP2
CM076289
CM003767
CM023415
CM035704
CM992179
GGT‐GTT
CAG‐TAG
CGC‐TGC
AAG‐TAG
CGA‐TGA
Gly237Val
Gln244Term
Arg250Cys
Lys254Term
Arg255Term
710G>T
730C>T
748C>T
760A>T
763C>T
G237V
Q244*
R250C
K254*
R255*
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Milunsky (2001) Genet Test 5:321
Cheadle (2000) Hum Mol Genet 9:1119
Fukuda (2005) Brain Dev 27:211
Chae (2004) J Child Neurol 19:503
Laccone (2001) Hum Mutat 17:183
Philippe (2006) Eur J Med Genet 49:9
Orrico (2000) FEBS Lett 481:285
De Bona (2000) Eur J Hum Genet 8:325
Buyse (2000) Am J Hum Genet 67:1428
Petel‐Galil (2006) J Med Genet 43:e56
Bienvenu (2002) Genet Test 6:1
Cheadle (2000) Hum Mol Genet 9:1119
BH (2002) MECP2 LSDB entry Unpublished:
Xiang (2000) J Med Genet 37:250
Amir (1999) Nat Genet 23:185
Fukuda (2005) Brain Dev 27:211
Amir (2000) Ann Neurol 47:670
Trappe (2001) Am J Hum Genet 68:1093
Li (2007) Zhonghua Er Ke Za Zhi 45:579
Gauthier (2005) Can J Neurol Sci 32:321
Li (2007) Zhonghua Er Ke Za Zhi 45:579
Amir (2000) Am J Med Genet 97:147
Vacca (2001) J Mol Med 78:648
Amir (1999) Nat Genet 23:185
RSRF (2002) MECP2 LSDB entry Unpublished:
Kim (2006) Exp Mol Med 38:119
Bourdon (2001) Hum Genet 108:43
Milunsky (2001) Genet Test 5:321
Wan (1999) Am J Hum Genet 65:1520
Amir (2000) Ann Neurol 47:670
Chapleau (2013) Am J Med Genet A 161:1638
Friez (2003) MECP2 LSDB entry Unpublished:1679
RSRF (2002) MECP2 LSDB entry Unpublished:
Fendri‐Kriaa (2011) Biochem Biophys Res Commun 409:270
Philippe (2006) Eur J Med Genet 49:9
Zvereff (2012) Brain Dev 34:750
Bienvenu (2002) Genet Test 6:1
Bienvenu (2000) Hum Mol Genet 9:1377
Weaving (2003) Am J Med Genet 118A:103
Bienvenu (2002) Genet Test 6:1
Buyse (2000) Am J Hum Genet 67:1428
Laccone (2001) Hum Mutat 17:183
Vacca (2001) J Mol Med 78:648
Laccone (2001) Hum Mutat 17:183
Cheadle (2000) Hum Mol Genet 9:1119
Moog (2003) Eur J Paediatr Neurol 7:5
No author given (2007) MECP2 LSDB entry Unpublished:2460
Dragich (2000) Hum Mol Genet 9:2365
Das (2002) MECP2 LSDB entry Pers comm:
Friez (2003) MECP2 LSDB entry Unpublished:1790
Amir (1999) Nat Genet 23:185
PubMed 11960578
PubMed 10767337
PubMed 15737703
PubMed 15526954
PubMed 11241840
PubMed 16473305
PubMed 11007980
PubMed 10854091
PubMed 11055898
PubMed 17142618
PubMed 12180070
PubMed 10767337
Source: LSDB
PubMed 10745042
PubMed 10508514
PubMed 15737703
PubMed 10805343
PubMed 11309679
PubMed 18021529
PubMed 16225173
PubMed 18021529
PubMed 11180222
PubMed 11269512
PubMed 10508514
Source: LSDB
PubMed 16672765
PubMed 11214906
PubMed 11960578
PubMed 10577905
PubMed 10805343
PubMed 23696494
Source: LSDB
Source: LSDB
PubMed 21575601
PubMed 16473305
PubMed 22277191
PubMed 12180070
PubMed 10814719
PubMed 12655490
PubMed 12180070
PubMed 11055898
PubMed 11241840
PubMed 11269512
PubMed 11241840
PubMed 10767337
PubMed 12615169
Source: LSDB
PubMed 11005791
Source: LSDB
Source: LSDB
PubMed 10508514
www.ngpd.it
Elenco mutazioni NGPD
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
CM001230
CM014900
CM106874
CM076287
CM014976
CM000749
CM058036
CM135743
CM045299
CM023416
CM057719
AAA‐TAA
CAG‐TAG
AAG‐TAG
AAA‐TAA
CGG‐TGG
CGA‐TGA
CCG‐TCG
GCC‐ACC
GCT‐GTT
AAA‐AGA
GTG‐ATG
Lys256Term
Gln262Term
Lys266Term
Lys267Term
Arg268Trp
Arg270Term
Pro272Ser
Ala278Thr
Ala279Val
Lys286Arg
Val288Met
766A>T
784C>T
796A>T
799A>T
802C>T
808C>T
814C>T
832G>A
836C>T
857A>G
862G>A
K256*
Q262*
K266*
K267*
R268W
R270*
P272S
A278T
A279V
K286R
V288M
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
CM076288
CM1210654
CM023745
CM000750
CM012403
CM012404
CM001231
CM001232
CM003457
CM000751
CM071858
CM055981
CM060325
CM023417
CM023418
CM060327
CM003768
CM070193
CM993354
CM000752
AAG‐TAG
GAG‐TAG
CGA‐GGA
CGA‐TGA
CAG‐TAG
GTA‐ATA
CCC‐GCC
CCC‐CGC
CCC‐CAC
CCC‐CTC
CCC‐TCC
CCC‐ACC
ATC‐AGC
AAG‐AGG
AAG‐CAG
AAG‐GAG
AAG‐AGG
AAG‐GAG
CGC‐TGC
CGC‐CAC
Lys289Term
Glu290Term
Arg294Gly
Arg294Term
Gln297Term
Val300Ile
Pro302Ala
Pro302Arg
Pro302His
Pro302Leu
Pro302Ser
Pro302Thr
Ile303Ser
Lys304Arg
Lys304Gln
Lys304Glu
Lys305Arg
Lys305Glu
Arg306Cys
Arg306His
865A>T
868G>T
880C>G
880C>T
889C>T
898G>A
904C>G
905C>G
905C>A
905C>T
904C>T
904C>A
908T>G
911A>G
910A>C
910A>G
914A>G
913A>G
916C>T
917G>A
K289*
E290*
R294G
R294*
Q297*
V300I
P302A
P302R
P302H
P302L
P302S
P302T
I303S
K304R
K304Q
K304E
K305R
K305E
R306C
R306H
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
CM076285
CM106875
CM066121
CM023419
CM001233
CM001234
CM058037
CM060328
CM118477
CM024216
CGC‐CTC
CGC‐CCC
ACG‐ATG
GAA‐GCA
CCC‐GCC
CCC‐CTC
CCC‐ACC
CTC‐GTC
CGG‐GGG
CGG‐TGG
Arg306Leu
Arg306Pro
Thr311Met
Glu318Ala
Pro322Ala
Pro322Leu
Pro322Thr
Leu328Val
Arg344Gly
Arg344Trp
917G>T
917G>C
932C>T
953A>C
964C>G
965C>T
964C>A
982C>G
1030C>G
1030C>T
R306L
R306P
T311M
E318A
P322A
P322L
P322T
L328V
R344G
R344W
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
MECP2
CM076284
CGC‐CAC
Arg354His
1061G>A
R354H
Rett syndrome
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
CM076286
CM118476
CM070192
CM023817
CM003458
CM035701
CM0910821
CM014901
CGC‐CTC
AGC‐AGA
GCC‐ACC
TCC‐CCC
TCA‐TAA
AAG‐TAG
TCA‐TGA
GCC‐GGC
Arg354Leu
Ser355Arg
Ala358Thr
Ser359Pro
Ser360Term
Lys363Term
Ser373Term
Ala378Gly
1061G>T
1065C>A
1072G>A
1075T>C
1079C>A
1087A>T
1118C>G
1133C>G
R354L
S355R
A358T
S359P
S360*
K363*
S373*
A378G
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Amir (2000) Ann Neurol 47:670
Milunsky (2001) Genet Test 5:321
Shapiro (2010) Pediatr Res 68:446
Djarmati (2007) Acta Neurol Scand 116:413
Erlandson (2001) Eur Child Adolesc Psychiatry 10:117
Cheadle (2000) Hum Mol Genet 9:1119
Gauthier (2005) Can J Neurol Sci 32:321
Chapleau (2013) Am J Med Genet A 161:1638
Chae (2004) J Child Neurol 19:503
Das (2002) MECP2 LSDB entry Pers comm:
Charman (2005) Eur J Hum Genet 13:1121
No author given (2007) MECP2 LSDB entry Unpublished:2105
Zhang (2012) Clin Genet 82:526
Deutscher (2002) Klin Padiatr 214:291
Cheadle (2000) Hum Mol Genet 9:1119
Nicolao (2001) Hum Mutat 18:132
Nicolao (2001) Hum Mutat 18:132
Huppke (2000) Hum Mol Genet 9:1369
Bienvenu (2000) Hum Mol Genet 9:1377
Amano (2000) J Hum Genet 45:231
Cheadle (2000) Hum Mol Genet 9:1119
Zahorakova (2007) J Hum Genet 52:342
Fukuda (2005) Brain Dev 27:211
Philippe (2006) Eur J Med Genet 49:9
Das (2002) MECP2 LSDB entry Pers comm:
Charman (2005) Eur J Hum Genet 13:1121
Philippe (2006) Eur J Med Genet 49:9
Dragich (2000) Hum Mol Genet 9:2365
Li (2007) J Hum Genet 52:38
Wan (1999) Am J Hum Genet 65:1520
Cheadle (2000) Hum Mol Genet 9:1119
No author given (2007) MECP2 LSDB entry Unpublished:2206
Shapiro (2010) Pediatr Res 68:446
Kim (2006) Exp Mol Med 38:119
RSRF (2002) MECP2 LSDB entry Unpublished:
Bienvenu (2000) Hum Mol Genet 9:1377
Huppke (2000) Hum Mol Genet 9:1369
Gauthier (2005) Can J Neurol Sci 32:321
Philippe (2006) Eur J Med Genet 49:9
Fendri‐Kriaa (2012) J Child Neurol 27:564
Laccone (2002) J Med Genet 39:586
No author given (2007) MECP2 LSDB entry Unpublished:2206
No author given (2007) MECP2 LSDB entry Unpublished:2025
Fendri‐Kriaa (2012) J Child Neurol 27:564
Li (2007) J Hum Genet 52:38
Bienvenu (2002) Genet Test 6:1
Buyse (2000) Am J Hum Genet 67:1428
Friez (2003) MECP2 LSDB entry Unpublished:1717
Smeets (2009) Am J Med Genet A 149A:199
Milunsky (2001) Genet Test 5:321
PubMed 10805343
PubMed 11960578
PubMed 20661168
PubMed 17986102
PubMed 11469283
PubMed 10767337
PubMed 16225173
PubMed 23696494
PubMed 15526954
Source: LSDB
PubMed 16077736
Source: LSDB
PubMed 22182064
PubMed 12235545
PubMed 10767337
PubMed 11462237
PubMed 11462237
PubMed 10814718
PubMed 10814719
PubMed 10944854
PubMed 10767337
PubMed 17387578
PubMed 15737703
PubMed 16473305
Source: LSDB
PubMed 16077736
PubMed 16473305
PubMed 11005791
PubMed 17089071
PubMed 10577905
PubMed 10767337
Source: LSDB
PubMed 20661168
PubMed 16672765
Source: LSDB
PubMed 10814719
PubMed 10814718
PubMed 16225173
PubMed 16473305
PubMed 21940684
PubMed 12161600
Source: LSDB
Source: LSDB
PubMed 21940684
PubMed 17089071
PubMed 12180070
PubMed 11055898
Source: LSDB
PubMed 19133691
PubMed 11960578
www.ngpd.it
Elenco mutazioni NGPD
MECP2
MECP2
MECP2
CM124038
CM014902
CM030694
CCA‐CTA
CCA‐CTA
CCA‐TCA
Pro381Leu
Pro388Leu
Pro388Ser
1142C>T
1163C>T
1162C>T
P381L
P388L
P388S
Rett syndrome
Rett syndrome
Rett syndrome
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
MECP2
CM025497
CM016262
CM0911290
CM003326
CM058038
CM024129
CM1212526
CM014977
CM001235
CM096401
CM023421
CCA‐ACA
GAG‐AAG
GAG‐TAG
CAG‐TAG
CCC‐TCC
GAG‐TAG
GTG‐ATG
TGA‐CGA
TGA‐TGC
TGA‐TTA
TGA‐TGG
Pro388Thr
Glu397Lys
Glu397Term
Gln406Term
Pro419Ser
Glu455Term
Val481Met
Term487Arg
Term487Cys
Term487Leu
Term487Trp
1162C>A
1189G>A
1189G>T
1216C>T
1255C>T
1363G>T
1441G>A
1459T>C
1461A>C
1460G>T
1461A>G
P388T
E397K
E397*
Q406*
P419S
E455*
V481M
*487R
*487C
*487L
*487W
MTTP
CM146576
ATG‐GTG
Met1Val
1A>G
MTTP
CM105780
CGG‐GGG
Arg46Gly
MTTP
CM146577
CAA‐TAA
MTTP
CM071868
MTTP
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Rett syndrome
Fendri‐Kriaa (2012) Gene 502:163
Milunsky (2001) Genet Test 5:321
Conforti (2003) Am J Med Genet 117A:184
Vorsanova (2002) Zh Nevrol Psikhiatr Im S S Korsakova 102:23
Giunti (2001) Brain Dev 23S1:S242
Raizis (2009) N Z Med J 122:21
Meloni (2000) Am J Hum Genet 67:982
Gauthier (2005) Can J Neurol Sci 32:321
Maiwald (2002) Neurogenetics 4:107
Zvereff (2012) Brain Dev 34:750
Erlandson (2001) Eur Child Adolesc Psychiatry 10:117
Bienvenu (2000) Hum Mol Genet 9:1377
Lima (2009) Arq Neuropsiquiatr 67:577
RSRF (2002) MECP2 LSDB entry Unpublished:
PubMed 22561697
PubMed 11960578
PubMed 12567420
PubMed 12449561
PubMed 11738883
PubMed 19652677
PubMed 10986043
PubMed 16225173
PubMed 12481990
PubMed 22277191
PubMed 11469283
PubMed 10814719
PubMed 19722030
Source: LSDB
M1V
Abetalipoproteinaemia
Di Filippo (2014) J Hepatol epub:epub
PubMed 24842304
136C>G
R46G
Abetalipoproteinaemia
Zeissig (2010) J Clin Invest 120:2889
PubMed 20592474
Gln52Term
154C>T
Q52*
Abetalipoproteinaemia
Di Filippo (2014) J Hepatol epub:epub
PubMed 24842304
AAA‐TAA
Lys103Term
307A>T
K103*
Abetalipoproteinaemia
Benayoun (2007) Mol Genet Metab 90:453
PubMed 17275380
CM096000
TGC‐TGA
Cys194Term
582C>A
C194*
Abetalipoproteinaemia
Chardon (2009) Eur J Pediatr 168:983
PubMed 19066957
MTTP
CM092727
TGG‐TAG
Trp308Term
923G>A
W308*
Abetalipoproteinaemia
Najah (2009) Clin Chim Acta 401:51
PubMed 19056372
MTTP
CM121744
CTT‐CAT
Leu435His
1304T>A
L435H
Abetalipoproteinaemia
Di Filippo (2012) J Lipid Res 53:548
PubMed 22236406
MTTP
CM993573
AAA‐TAA
Lys448Term
1342A>T
K448*
Abetalipoproteinaemia
Wang (2000) Hum Mutat 15:294
PubMed 10679949
MTTP
CM113147
CAC‐CGC
His529Arg
1586A>G
H529R
Abetalipoproteinaemia
Sani (2011) Int J Mol Med 10:221
PubMed 21502686
MTTP
CM961001
CGC‐CAC
Arg540His
1619G>A
R540H
Abetalipoproteinaemia
Rehberg (1996) J Biol Chem 271:29945
PubMed 8939939
MTTP
CM126257
CCA‐CTA
Pro552Leu
1655C>T
P552L
Abetalipoproteinaemia
Aminoff (2012) Clin Genet 82:197
PubMed 22150066
MTTP
CM068327
ATT‐ACT
Ile564Thr
1691T>C
I564T
Abetalipoproteinaemia
Sakamoto (2006) Eur J Pediatr 165:68
PubMed 16143868
MTTP
CM993574
AGC‐ATC
Ser590Ile
1769G>T
S590I
Abetalipoproteinaemia
Wang (2000) Hum Mutat 15:294
PubMed 10679949
MTTP
CM930501
CGA‐TGA
Arg595Term
1783C>T
R595*
Abetalipoproteinaemia
Sharp (1993) Nature 365:65
PubMed 8361539
MTTP
CM993575
GGA‐GAA
Gly746Glu
2237G>A
G746E
Abetalipoproteinaemia
Wang (2000) Hum Mutat 15:294
PubMed 10679949
MTTP
CM1311289
TAT‐TAA
Tyr771Term
2313T>A
Y771*
Abetalipoproteinaemia
Hammer (2013) J Clin Neurosci epub:epub
PubMed 24139731
MTTP
CM004264
AAT‐TAT
Asn780Tyr
2338A>T
N780Y
Abetalipoproteinaemia
Ohashi (2000) J Lipid Res 41:1199
PubMed 10946006
MTTP
CM993576
AAA‐TAA
Lys842Term
2524A>T
K842*
Abetalipoproteinaemia
Wang (2000) Hum Mutat 15:294
PubMed 10679949
MTTP
CM952028
GGA‐TGA
Gly865Term
2593G>T
G865*
Ricci (1995) J Biol Chem 270:14281
PubMed 7782284
NIPBL
CM041503
ATG‐AAG
Met1Lys
2T>A
M1K
Krantz (2004) Nat Genet 36:631
PubMed 15146186
NIPBL
CM121322
GGG‐AGG
Gly15Arg
43G>A
G15R
Abetalipoproteinaemia
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Braunholz (2012) Eur J Hum Genet 20:271
PubMed 21934712
www.ngpd.it
Elenco mutazioni NGPD
NIPBL
CM1311617
GGG‐GAG
Gly15Glu
44G>A
G15E
NIPBL
CM062920
CCA‐CAA
Pro29Gln
86C>A
P29Q
NIPBL
CM107652
CGA‐TGA
Arg45Term
133C>T
R45*
NIPBL
CM1212218
AAC‐ATC
Asn70Ile
209A>T
N70I
NIPBL
CM121323
AGC‐ACC
Ser111Thr
332G>C
S111T
NIPBL
CM121325
GCC‐TCC
Ala179Ser
535G>T
A179S
NIPBL
CM121324
GCC‐ACC
Ala179Thr
535G>A
A179T
NIPBL
CM121326
CCT‐CTT
Pro192Leu
575C>T
P192L
NIPBL
CM062922
GAC‐GGC
Asp246Gly
737A>G
D246G
NIPBL
CM121327
CTA‐GTA
Leu254Val
760C>G
L254V
NIPBL
CM107653
CAG‐TAG
Gln276Term
826C>T
Q276*
NIPBL
CM123764
CGA‐TGA
Arg308Term
922C>T
R308*
NIPBL
BM1290857
CCA‐ACA
Pro351Thr
1051C>A
P351T
NIPBL
CM1212219
AAA‐AAC
Lys357Asn
1071A>C
K357N
NIPBL
CM138746
CAG‐TAG
Gln449Term
1345C>T
Q449*
NIPBL
CM042507
CGA‐TGA
Arg479Term
1435C>T
R479*
NIPBL
CM103930
TCA‐TGA
Ser535Term
1604C>G
S535*
NIPBL
CM051563
CGA‐TGA
Arg629Term
1885C>T
R629*
NIPBL
CM051564
GAA‐TAA
Glu641Term
1921G>T
E641*
NIPBL
CM101850
CAA‐TAA
Gln716Term
2146C>T
Q716*
NIPBL
CM062916
AAA‐AGA
Lys775Arg
2324A>G
K775R
NIPBL
CM062925
AAA‐TAA
Lys781Term
2341A>T
K781*
NIPBL
CM042508
CGA‐TGA
Arg797Term
2389C>T
R797*
NIPBL
CM107654
CGA‐TGA
Arg808Term
2422C>T
R808*
NIPBL
CM042509
CGA‐TGA
Arg832Term
2494C>T
R832*
NIPBL
CM062926
CGA‐TGA
Arg834Term
2500C>T
R834*
NIPBL
CM1212220
CGA‐CAA
Arg868Gln
2603G>A
R868Q
NIPBL
CM145075
CGA‐TGA
Arg868Term
2602C>T
R868*
NIPBL
CM042510
GAA‐TAA
Glu977Term
2929G>T
E977*
NIPBL
CM042801
TCA‐TGA
Ser1024Term
3071C>G
S1024*
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Jones (2013) J Clin Pathol epub:epub
PubMed 24189319
Bhuiyan (2006) J Med Genet 43:568
PubMed 16236812
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Braunholz (2012) Eur J Hum Genet 20:271
PubMed 21934712
Braunholz (2012) Eur J Hum Genet 20:271
PubMed 21934712
Braunholz (2012) Eur J Hum Genet 20:271
PubMed 21934712
Braunholz (2012) Eur J Hum Genet 20:271
PubMed 21934712
Yan (2006) Am J Med Genet A 140A:1531
PubMed 16770807
Braunholz (2012) Eur J Hum Genet 20:271
PubMed 21934712
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Slavin (2012) Am J Med Genet A 158A:1481
PubMed 22581668
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Huisman (2013) J Med Genet 50:339
PubMed 23505322
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Rohatgi (2010) Am J Med Genet A 152A:1641
PubMed 20583156
Miyake (2005) Am J Med Genet 135A:103
PubMed 15723327
Miyake (2005) Am J Med Genet 135A:103
PubMed 15723327
Pié (2010) Am J Med Genet A 152A:924
PubMed 20358602
Bhuiyan (2006) J Med Genet 43:568
PubMed 16236812
Bhuiyan (2006) J Med Genet 43:568
PubMed 16236812
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Bhuiyan (2006) J Med Genet 43:568
PubMed 16236812
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Bettini (2014) Am J Med Genet A 164:1520
PubMed 24668777
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
www.ngpd.it
Elenco mutazioni NGPD
NIPBL
CM051565
GAA‐TAA
Glu1116Term
3346G>T
E1116*
NIPBL
CM1212035
CGA‐TGA
Arg1149Term
3445C>T
R1149*
NIPBL
CM1212221
GAG‐AAG
Glu1207Lys
3619G>A
E1207K
NIPBL
CM042511
GCT‐GGT
Ala1246Gly
3737C>G
A1246G
NIPBL
CM141450
GAA‐TAA
Glu1292Term
3874G>T
E1292*
NIPBL
CM107655
ATG‐AGG
Met1301Arg
3902T>G
M1301R
NIPBL
CM041504
TGT‐CGT
Cys1311Arg
3931T>C
C1311R
NIPBL
CM042512
CTT‐CCT
Leu1312Pro
3935T>C
L1312P
NIPBL
CM103802
CAG‐CGG
Gln1338Arg
4013A>G
Q1338R
NIPBL
CM1212222
TAC‐CAC
Tyr1339His
4015T>C
Y1339H
NIPBL
CM100907
CAT‐CCT
His1343Pro
4028A>C
H1343P
NIPBL
CM041505
CTT‐CGT
Leu1348Arg
4043T>G
L1348R
NIPBL
CM042802
TCA‐TGA
Ser1398Term
4193C>G
S1398*
NIPBL
CM107656
CTA‐CGA
Leu1401Arg
4202T>G
L1401R
NIPBL
CM076352
CAG‐TAG
Gln1413Term
4237C>T
Q1413*
NIPBL
CM073231
CAG‐TAG
Gln1431Term
4291C>T
Q1431*
NIPBL
CM1212223
AAG‐CAG
Lys1436Gln
4306A>C
K1436Q
NIPBL
CM042803
TCA‐TAA
Ser1459Term
4376C>A
S1459*
NIPBL
CM107663
AGG‐AGT
Arg1474Ser
4422G>T
R1474S
NIPBL
CM138745
GAA‐TAA
Glu1515Term
4543G>T
E1515*
NIPBL
CM070215
CAG‐TAG
Gln1523Term
4567C>T
Q1523*
NIPBL
CM070216
TAT‐TAA
Tyr1531Term
4593T>A
Y1531*
NIPBL
CM042513
CGA‐TGA
Arg1536Term
4606C>T
R1536*
NIPBL
CM1212224
GTT‐TTT
Val1625Phe
4873G>T
V1625F
NIPBL
CM1212225
ATT‐CTT
Ile1637Leu
4909A>C
I1637L
NIPBL
CM1212226
AAC‐CAC
Asn1722His
5164A>C
N1722H
NIPBL
CM042514
CGA‐TGA
Arg1723Term
5167C>T
R1723*
NIPBL
CM042515
CGA‐TGA
Arg1758Term
5272C>T
R1758*
NIPBL
CM103798
CGA‐GGA
Arg1789Gly
5365C>G
R1789G
NIPBL
CM042516
CGA‐CTA
Arg1789Leu
5366G>T
R1789L
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Miyake (2005) Am J Med Genet 135A:103
PubMed 15723327
Mende (2012) Case Rep Genet :
PubMed 23304577
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Dempsey (2014) Prenat Diagn 34:163
PubMed 24218399
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Tonkin (2004) Nat Genet 36:636
PubMed 15146185
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Rohatgi (2010) Am J Med Genet A 152A:1641
PubMed 20583156
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Park (2010) Ann Clin Lab Sci 40:20
PubMed 20124326
Tonkin (2004) Nat Genet 36:636
PubMed 15146185
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Oliveira (2010) Hum Mutat 31:1216
Kline (2007) Am J Med Genet C Semin Med Genet 145:248
PubMed 20824775
Selicorni (2007) Clin Genet 72:98
PubMed 17661813
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Huisman (2013) J Med Genet 50:339
PubMed 23505322
Schoumans (2007) Eur J Hum Genet 15:143
PubMed 17106445
Schoumans (2007) Eur J Hum Genet 15:143
PubMed 17106445
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Rohatgi (2010) Am J Med Genet A 152A:1641
PubMed 20583156
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
PubMed 17640042
www.ngpd.it
Elenco mutazioni NGPD
NIPBL
CM042517
GAC‐GTC
Asp1803Val
5408A>T
D1803V
NIPBL
CM071043
CGA‐TGA
Arg1819Term
5455C>T
R1819*
NIPBL
CM107657
TCG‐TTG
Ser1824Leu
5471C>T
S1824L
NIPBL
CM051566
CGA‐CAA
Arg1828Gln
5483G>A
R1828Q
NIPBL
CM103803
GCA‐GTA
Ala1830Val
5489C>T
A1830V
NIPBL
CM103961
CGA‐TGA
Arg1842Term
5524C>T
R1842*
NIPBL
CM073230
AGA‐GGA
Arg1856Gly
5566A>G
R1856G
NIPBL
CM042518
AGA‐ACA
Arg1856Thr
5567G>C
R1856T
NIPBL
CM107658
AGG‐ACG
Arg1865Thr
5594G>C
R1865T
NIPBL
CM073229
AAG‐TAG
Lys1870Term
5608A>T
K1870*
NIPBL
CM071041
AAA‐GAA
Lys1891Glu
5671A>G
K1891E
NIPBL
CM103804
AGA‐ACA
Arg1895Thr
5684G>C
R1895T
NIPBL
CM107659
GAT‐GGT
Asp1898Gly
5693A>G
D1898G
NIPBL
CM103799
CAA‐CCA
Gln1973Pro
5918A>C
Q1973P
NIPBL
CM062923
GAG‐GAC
Glu2052Asp
6156G>C
E2052D
NIPBL
CM071901
CCA‐CTA
Pro2056Leu
6167C>T
P2056L
NIPBL
CM071042
CCA‐TCA
Pro2056Ser
6166C>T
P2056S
NIPBL
CM101849
GGC‐GCC
Gly2081Ala
6242G>C
G2081A
NIPBL
CM101853
AGC‐ATC
Ser2090Ile
6269G>T
S2090I
NIPBL
CM043625
CTT‐GTT
Leu2092Val
6274C>G
L2092V
NIPBL
CM070214
ACC‐CCC
Thr2146Pro
6436A>C
T2146P
NIPBL
CM101851
CTA‐CCA
Leu2150Pro
6449T>C
L2150P
NIPBL
CM062924
GAA‐TAA
Glu2159Term
6475G>T
E2159*
NIPBL
CM107660
GTG‐ATG
Val2233Met
6697G>A
V2233M
NIPBL
CM043626
AAC‐ATC
Asn2236Ile
6707A>T
N2236I
NIPBL
CM101852
CAG‐TAG
Gln2294Term
6880C>T
Q2294*
NIPBL
CM042519
CGC‐TGC
Arg2298Cys
6892C>T
R2298C
NIPBL
CM042520
CGC‐CAC
Arg2298His
6893G>A
R2298H
NIPBL
CM073233
CGC‐CTC
Arg2298Leu
6893G>T
R2298L
NIPBL
CM062919
CGC‐AGC
Arg2298Ser
6892C>A
R2298S
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Borck (2007) Hum Mutat 28:205
PubMed 17221863
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Miyake (2005) Am J Med Genet 135A:103
PubMed 15723327
Rohatgi (2010) Am J Med Genet A 152A:1641
PubMed 20583156
Hosokawa (2010) Congenit Anom (Kyoto) 50:129
PubMed 20156239
Selicorni (2007) Clin Genet 72:98
PubMed 17661813
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Selicorni (2007) Clin Genet 72:98
PubMed 17661813
Borck (2007) Hum Mutat 28:205
PubMed 17221863
Rohatgi (2010) Am J Med Genet A 152A:1641
PubMed 20583156
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Rohatgi (2010) Am J Med Genet A 152A:1641
PubMed 20583156
Bhuiyan (2006) J Med Genet 43:568
PubMed 16236812
Lalatta (2007) Genet Med 9:188
PubMed 17413424
Borck (2007) Hum Mutat 28:205
PubMed 17221863
Pié (2010) Am J Med Genet A 152A:924
PubMed 20358602
Pié (2010) Am J Med Genet A 152A:924
PubMed 20358602
Borck (2004) J Med Genet 41:e128
PubMed 15591270
Schoumans (2007) Eur J Hum Genet 15:143
PubMed 17106445
Pié (2010) Am J Med Genet A 152A:924
PubMed 20358602
Yan (2006) Am J Med Genet A 140A:1531
PubMed 16770807
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Borck (2004) J Med Genet 41:e128
PubMed 15591270
Pié (2010) Am J Med Genet A 152A:924
PubMed 20358602
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Selicorni (2007) Clin Genet 72:98
PubMed 17661813
Bhuiyan (2006) J Med Genet 43:568
PubMed 16236812
www.ngpd.it
Elenco mutazioni NGPD
NIPBL
CM042521
GGT‐CGT
Gly2312Arg
6934G>C
G2312R
NIPBL
CM1212227
GGT‐GTT
Gly2312Val
6935G>T
G2312V
NIPBL
CM092294
CAG‐TAG
Gln2318Term
6952C>T
Q2318*
NIPBL
CM062921
CAG‐TAG
Gln2366Term
7096C>T
Q2366*
NIPBL
CM042522
GGT‐GCT
Gly2381Ala
7142G>C
G2381A
NIPBL
CM042523
GCT‐ACT
Ala2390Thr
7168G>A
A2390T
NIPBL
CM108743
TCA‐TGA
Ser2393Term
7178C>G
S2393*
NIPBL
CM071044
TCC‐CCC
Ser2397Pro
7189T>C
S2397P
NIPBL
CM073232
CGA‐TGA
Arg2407Term
7219C>T
R2407*
NIPBL
CM041506
TAT‐TGT
Tyr2430Cys
7289A>G
Y2430C
NIPBL
CM1212228
GAC‐AAC
Asp2433Asn
7297G>A
D2433N
NIPBL
CM065339
GAC‐GGC
Asp2433Gly
7298A>G
D2433G
NIPBL
CM070213
GCC‐ACC
Ala2436Thr
7306G>A
A2436T
NIPBL
CM042524
TAC‐CAC
Tyr2440His
7318T>C
Y2440H
NIPBL
CM107661
TTG‐TAG
Leu2447Term
7340T>A
L2447*
NIPBL
CM071902
TCA‐TGA
Ser2490Term
7469C>G
S2490*
NIPBL
CM062917
AAA‐ATA
Lys2550Ile
7649A>T
K2550I
NIPBL
CM062918
CAG‐TAG
Gln2617Term
7849C>T
Q2617*
NIPBL
CM073234
GAA‐TAA
Glu2626Term
7876G>T
E2626*
NIPBL
CM041507
GAA‐TAA
Glu2635Term
7903G>T
E2635*
NIPBL
NOTCH2
NOTCH2
NOTCH2
NOTCH2
NOTCH2
NOTCH2
NOTCH2
NOTCH2
NOTCH2
NOTCH2
NOTCH2
NRAS
NRAS
NRAS
NRAS
NSD1
CM107662
CM1110711
CM1110712
CM1110713
CM061878
CM1110714
CM1110715
CM147600
CM147601
CM1110716
CM1110717
CM1110718
CM112982
CM128754
CM100126
CM100127
CM033417
CGA‐TGA
TGT‐CGT
CCT‐TCT
CCC‐TCC
TGT‐TAT
TGT‐CGT
ATT‐AAT
TCA‐TTA
CAC‐TAC
CGC‐TGC
CGC‐CAC
CGA‐TGA
ATC‐AAC
CCC‐CTC
ACC‐ATC
GGA‐GAA
TGG‐TAG
Arg2793Term
Cys373Arg
Pro383Ser
Pro394Ser
Cys444Tyr
Cys480Arg
Ile681Asn
Ser1741Leu
His1882Tyr
Arg1953Cys
Arg1953His
Arg2003Term
Ile24Asn
Pro34Leu
Thr50Ile
Gly60Glu
Trp377Term
8377C>T
1117T>C
1147C>T
1180C>T
1331G>A
1438T>C
2042T>A
5222C>T
5644C>T
5857C>T
5858G>A
6007C>T
71T>A
101C>T
149C>T
179G>A
1130G>A
R2793*
C373R
P383S
P394S
C444Y
C480R
I681N
S1741L
H1882Y
R1953C
R1953H
R2003*
I24N
P34L
T50I
G60E
W377*
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Alagille syndrome
Noonan syndrome
Noonan syndrome
Noonan syndrome
Noonan syndrome
Sotos syndrome
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Chong (2009) Prenat Diagn 29:489
PubMed 19242925
Yan (2006) Am J Med Genet A 140A:1531
PubMed 16770807
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Park (2010) J Korean Med Sci 25:1821
PubMed 21165303
Borck (2007) Hum Mutat 28:205
PubMed 17221863
Selicorni (2007) Clin Genet 72:98
PubMed 17661813
Tonkin (2004) Nat Genet 36:636
PubMed 15146185
Kuzniacka (2012) J Appl Genet epub:epub
PubMed 23254390
Niu (2006) Prenat Diagn 26:1054
PubMed 16958143
Schoumans (2007) Eur J Hum Genet 15:143
PubMed 17106445
Gillis (2004) Am J Hum Genet 75:610
PubMed 15318302
Oliveira (2010) Hum Mutat 31:1216
PubMed 20824775
Lalatta (2007) Genet Med 9:188
PubMed 17413424
Bhuiyan (2006) J Med Genet 43:568
PubMed 16236812
Bhuiyan (2006) J Med Genet 43:568
PubMed 16236812
Selicorni (2007) Clin Genet 72:98
PubMed 17661813
Tonkin (2004) Nat Genet 36:636
PubMed 15146185
Oliveira (2010) Hum Mutat 31:1216
Kamath (2012) J Med Genet 49:138
Kamath (2012) J Med Genet 49:138
Kamath (2012) J Med Genet 49:138
McDaniell (2006) Am J Hum Genet 79:169
Kamath (2012) J Med Genet 49:138
Kamath (2012) J Med Genet 49:138
Vilarinho (2014) J Hepatol epub:epub
Vilarinho (2014) J Hepatol epub:epub
Kamath (2012) J Med Genet 49:138
Kamath (2012) J Med Genet 49:138
Kamath (2012) J Med Genet 49:138
Runtuwene (2011) Dis Model Mech 4:393
Denayer (2012) Mol Syndromol 3:34
Cirstea (2010) Nat Genet 42:27
Cirstea (2010) Nat Genet 42:27
Kamimura (2003) J Med Genet 40:e126
PubMed 20824775
PubMed 22209762
PubMed 22209762
PubMed 22209762
PubMed 16773578
PubMed 22209762
PubMed 22209762
PubMed 25016221
PubMed 25016221
PubMed 22209762
PubMed 22209762
PubMed 22209762
PubMed 21263000
PubMed 22855653
PubMed 19966803
PubMed 19966803
PubMed 14627693
www.ngpd.it
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
Elenco mutazioni NGPD
CM056663
CM054052
CM020744
CM031299
CM052293
CM043032
CM030068
CM097130
CM056665
CM030069
CM032970
CM052294
CM074968
CM051588
CM052295
CM052296
CM030070
CM052297
CM052298
CM074962
HM080041
CM052299
CM031300
CM052300
CM052301
CM032971
CM050731
CM074969
CM074963
CM074958
CM043033
CM074949
CM052302
CM033418
CM030918
CM033419
CM054050
CM043034
CM074960
CM032972
CM030071
CM030072
CM112764
CM052303
CM136450
CM052304
CM074951
CM074964
CM052305
CM030073
CM052306
CM054051
CM032973
GAA‐TAA
TGG‐TAG
TCA‐TGA
CGA‐TGA
GAA‐TAA
TTG‐TAG
CGA‐TGA
CAG‐TAG
TCA‐TGA
CGA‐TGA
CAA‐TAA
CGA‐TGA
TGT‐TGA
CGA‐TGA
TCA‐TGA
CAG‐TAG
CAA‐TAA
TTA‐TGA
CGA‐TGA
TCA‐TGA
TTA‐TGA
TAC‐TAA
TGT‐TGA
CGA‐TGA
TCA‐TGA
CGA‐TGA
CAG‐TAG
TTA‐TAA
GAA‐TAA
CAA‐TAA
TTA‐TGA
CAG‐TAG
TCA‐TGA
AAA‐TAA
CGA‐TGA
CGA‐TGA
GAG‐TAG
CAG‐TAG
GAA‐TAA
CGA‐GGA
CGA‐TGA
CGA‐TGA
GAA‐TAA
TGC‐TTC
TGT‐TAT
GTA‐GCA
TGT‐CGT
TGC‐TGA
TGT‐AGT
CAT‐CTT
TGT‐CGT
TGT‐AGT
CAG‐TAG
Glu393Term
Trp421Term
Ser437Term
Arg440Term
Glu453Term
Leu476Term
Arg498Term
Gln546Term
Ser585Term
Arg604Term
Gln610Term
Arg611Term
Cys615Term
Arg632Term
Ser656Term
Gln743Term
Gln775Term
Leu778Term
Arg788Term
Ser885Term
Leu888Term
Tyr936Term
Cys1021Term
Arg1023Term
Ser1024Term
Arg1031Term
Gln1058Term
Leu1097Term
Glu1147Term
Gln1221Term
Leu1227Term
Gln1259Term
Ser1269Term
Lys1296Term
Arg1320Term
Arg1322Term
Glu1353Term
Gln1370Term
Glu1380Term
Arg1471Gly
Arg1471Term
Arg1473Term
Glu1520Term
Cys1570Phe
Cys1593Tyr
Val1595Ala
Cys1596Arg
Cys1606Term
Cys1611Ser
His1616Leu
Cys1619Arg
Cys1619Ser
Gln1629Term
1177G>T
1262G>A
1310C>G
1318C>T
1357G>T
1427T>A
1492C>T
1636C>T
1754C>G
1810C>T
1828C>T
1831C>T
1845T>A
1894C>T
1967C>G
2227C>T
2323C>T
2333T>G
2362C>T
2654C>G
2663T>G
2808C>A
3063T>A
3067C>T
3071C>G
3091C>T
3172C>T
3290T>A
3439G>T
3661C>T
3680T>G
3775C>T
3806C>G
3886A>T
3958C>T
3964C>T
4057G>T
4108C>T
4138G>T
4411C>G
4411C>T
4417C>T
4558G>T
4709G>T
4778G>A
4784T>C
4786T>C
4818C>A
4831T>A
4847A>T
4855T>C
4855T>A
4885C>T
E393*
W421*
S437*
R440*
E453*
L476*
R498*
Q546*
S585*
R604*
Q610*
R611*
C615*
R632*
S656*
Q743*
Q775*
L778*
R788*
S885*
L888*
Y936*
C1021*
R1023*
S1024*
R1031*
Q1058*
L1097*
E1147*
Q1221*
L1227*
Q1259*
S1269*
K1296*
R1320*
R1322*
E1353*
Q1370*
E1380*
R1471G
R1471*
R1473*
E1520*
C1570F
C1593Y
V1595A
C1596R
C1606*
C1611S
H1616L
C1619R
C1619S
Q1629*
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Tong (2005) Chin Med J (Engl) 118:1499
Waggoner (2005) Genet Med 7:524
Kurotaki (2002) Nat Genet 30:365
Rio (2003) J Med Genet 40:436
Tatton‐Brown (2005) Am J Hum Genet 77:193
de Boer (2004) Horm Res 62:197
Douglas (2003) Am J Hum Genet 72:132
Kotilainen (2009) Am J Med Genet A 149A:2409
Tong (2005) Chin Med J (Engl) 118:1499
Douglas (2003) Am J Hum Genet 72:132
Kurotaki (2003) Hum Mutat 22:378
Tatton‐Brown (2005) Am J Hum Genet 77:193
Saugier‐Veber (2007) Hum Mutat 28:1098
Cecconi (2005) Am J Med Genet 134A:247
Tatton‐Brown (2005) Am J Hum Genet 77:193
Tatton‐Brown (2005) Am J Hum Genet 77:193
Douglas (2003) Am J Hum Genet 72:132
Tatton‐Brown (2005) Am J Hum Genet 77:193
Tatton‐Brown (2005) Am J Hum Genet 77:193
Saugier‐Veber (2007) Hum Mutat 28:1098
Ellison (2008) Hum Genet 124:311
Tatton‐Brown (2005) Am J Hum Genet 77:193
Rio (2003) J Med Genet 40:436
Tatton‐Brown (2005) Am J Hum Genet 77:193
Tatton‐Brown (2005) Am J Hum Genet 77:193
Turkmen (2003) Eur J Hum Genet 11:858
Melchior (2005) Ann Hum Genet 69:222
Saugier‐Veber (2007) Hum Mutat 28:1098
Saugier‐Veber (2007) Hum Mutat 28:1098
Saugier‐Veber (2007) Hum Mutat 28:1098
de Boer (2004) Horm Res 62:197
Saugier‐Veber (2007) Hum Mutat 28:1098
Tatton‐Brown (2005) Am J Hum Genet 77:193
Kamimura (2003) J Med Genet 40:e126
Nagai (2003) J Med Genet 40:285
Kamimura (2003) J Med Genet 40:e126
Waggoner (2005) Genet Med 7:524
de Boer (2004) Horm Res 62:197
Saugier‐Veber (2007) Hum Mutat 28:1098
Kurotaki (2003) Hum Mutat 22:378
Douglas (2003) Am J Hum Genet 72:132
Douglas (2003) Am J Hum Genet 72:132
Cortès‐Saladelafont (2011) An Pediatr (Barc) :
Tatton‐Brown (2005) Am J Hum Genet 77:193
Sohn (2013) J Hum Genet 58:73
Tatton‐Brown (2005) Am J Hum Genet 77:193
Saugier‐Veber (2007) Hum Mutat 28:1098
Saugier‐Veber (2007) Hum Mutat 28:1098
Tatton‐Brown (2005) Am J Hum Genet 77:193
Douglas (2003) Am J Hum Genet 72:132
Tatton‐Brown (2005) Am J Hum Genet 77:193
Waggoner (2005) Genet Med 7:524
Turkmen (2003) Eur J Hum Genet 11:858
PubMed 16232326
PubMed 16247291
PubMed 11896389
PubMed 12807965
PubMed 15942875
PubMed 15452385
PubMed 12464997
PubMed 19876911
PubMed 16232326
PubMed 12464997
PubMed 14517949
PubMed 15942875
PubMed 17565729
PubMed 15742365
PubMed 15942875
PubMed 15942875
PubMed 12464997
PubMed 15942875
PubMed 15942875
PubMed 17565729
Source: Online submission
PubMed 15942875
PubMed 12807965
PubMed 15942875
PubMed 15942875
PubMed 14571271
PubMed 15720303
PubMed 17565729
PubMed 17565729
PubMed 17565729
PubMed 15452385
PubMed 17565729
PubMed 15942875
PubMed 14627693
PubMed 12676901
PubMed 14627693
PubMed 16247291
PubMed 15452385
PubMed 17565729
PubMed 14517949
PubMed 12464997
PubMed 12464997
PubMed 21482210
PubMed 15942875
PubMed 23190751
PubMed 15942875
PubMed 17565729
PubMed 17565729
PubMed 15942875
PubMed 12464997
PubMed 15942875
PubMed 16247291
PubMed 14571271
www.ngpd.it
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
Elenco mutazioni NGPD
CM030074
CM093086
CM052307
CM1211947
CM1211975
CM052308
CM119746
CM030075
CM031302
CM074955
CM074953
CM050732
CM043035
CM074961
CM1211948
CM033420
CM032974
CM032975
CM052309
CM052310
CM074956
CM033421
CM1211949
CM052311
CM030076
CM030077
CM032976
CM074970
CM043036
CM074957
CM1211958
CM056662
CM052312
CM074954
CM097129
CM032977
CM052313
CM052314
CM032978
CM052315
CM074967
CM1211950
CM1211951
CM043037
CM116596
CM043038
CM116928
CM030078
CM1211952
CM052316
CM030079
CM052317
CM043039
CTC‐CCC
TGT‐TGA
TGT‐TAT
TGT‐GGT
TGT‐CGT
CGC‐TGC
TGT‐TCT
TGC‐TGG
ATC‐AAC
CCT‐CTT
CGA‐TGA
TGG‐TGA
TGC‐TAC
TGC‐GGC
TGC‐GGC
CCT‐CTT
GCT‐CCT
GAA‐TAA
TGC‐CGC
TGC‐TCC
CTG‐CCG
TGG‐TGA
TGG‐TGC
CGA‐TGA
CGA‐TGA
GGA‐GTA
GTC‐TTC
TTG‐TAG
GTC‐GAC
CTT‐CCT
TTA‐TGA
AGA‐TGA
CAG‐TAG
CGA‐TGA
TAT‐TGT
AAA‐TAA
TGC‐TTC
TGC‐TGG
TGC‐TAC
TGT‐GGT
TGT‐TGG
CCC‐CGC
TCT‐CCT
AAC‐GAC
AAC‐AGC
CGC‐TGC
CTC‐CCC
TGT‐CGT
CGC‐GGC
CGG‐TGG
TGG‐TAG
GGT‐GAT
ATT‐ACT
Leu1637Pro
Cys1640Term
Cys1640Tyr
Cys1643Gly
Cys1661Arg
Arg1663Cys
Cys1664Ser
Cys1674Trp
Ile1687Asn
Pro1690Leu
Arg1700Term
Trp1709Term
Cys1710Tyr
Cys1713Gly
Cys1725Gly
Pro1726Leu
Ala1727Pro
Glu1732Term
Cys1733Arg
Cys1733Ser
Leu1734Pro
Trp1743Term
Trp1761Cys
Arg1766Term
Arg1778Term
Gly1792Val
Val1796Phe
Leu1805Term
Val1812Asp
Leu1838Pro
Leu1848Term
Arg1855Term
Gln1856Term
Arg1861Term
Tyr1870Cys
Lys1871Term
Cys1895Phe
Cys1895Trp
Cys1895Tyr
Cys1897Gly
Cys1897Trp
Pro1904Arg
Ser1909Pro
Asn1913Asp
Asn1913Ser
Arg1914Cys
Leu1917Pro
Cys1925Arg
Arg1948Gly
Arg1952Trp
Trp1954Term
Gly1955Asp
Ile1962Thr
4910T>C
4920T>A
4919G>A
4927T>G
4981T>C
4987C>T
4991G>C
5022C>G
5060T>A
5069C>T
5098C>T
5127G>A
5129G>A
5137T>G
5173T>G
5177C>T
5179G>C
5194G>T
5197T>C
5198G>C
5201T>C
5229G>A
5283G>C
5296C>T
5332C>T
5375G>T
5386G>T
5414T>A
5435T>A
5513T>C
5543T>G
5563A>T
5566C>T
5581C>T
5609A>G
5611A>T
5684G>T
5685C>G
5684G>A
5689T>G
5691T>G
5711C>G
5725T>C
5737A>G
5738A>G
5740C>T
5750T>C
5773T>C
5842C>G
5854C>T
5861G>A
5864G>A
5885T>C
L1637P
C1640*
C1640Y
C1643G
C1661R
R1663C
C1664S
C1674W
I1687N
P1690L
R1700*
W1709*
C1710Y
C1713G
C1725G
P1726L
A1727P
E1732*
C1733R
C1733S
L1734P
W1743*
W1761C
R1766*
R1778*
G1792V
V1796F
L1805*
V1812D
L1838P
L1848*
R1855*
Q1856*
R1861*
Y1870C
K1871*
C1895F
C1895W
C1895Y
C1897G
C1897W
P1904R
S1909P
N1913D
N1913S
R1914C
L1917P
C1925R
R1948G
R1952W
W1954*
G1955D
I1962T
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Douglas (2003) Am J Hum Genet 72:132
Leventopoulos (2009) Horm Res 71:45
Tatton‐Brown (2005) Am J Hum Genet 77:193
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Tatton‐Brown (2005) Am J Hum Genet 77:193
Hirai (2011) Am J Med Genet A 155:2933
Douglas (2003) Am J Hum Genet 72:132
Rio (2003) J Med Genet 40:436
Saugier‐Veber (2007) Hum Mutat 28:1098
Saugier‐Veber (2007) Hum Mutat 28:1098
Melchior (2005) Ann Hum Genet 69:222
de Boer (2004) Horm Res 62:197
Saugier‐Veber (2007) Hum Mutat 28:1098
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Kurotaki (2003) Hum Mutat 22:378
Kurotaki (2003) Hum Mutat 22:378
Turkmen (2003) Eur J Hum Genet 11:858
Tatton‐Brown (2005) Am J Hum Genet 77:193
Tatton‐Brown (2005) Am J Hum Genet 77:193
Saugier‐Veber (2007) Hum Mutat 28:1098
Kamimura (2003) J Med Genet 40:e126
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Tatton‐Brown (2005) Am J Hum Genet 77:193
Douglas (2003) Am J Hum Genet 72:132
Douglas (2003) Am J Hum Genet 72:132
Turkmen (2003) Eur J Hum Genet 11:858
Saugier‐Veber (2007) Hum Mutat 28:1098
de Boer (2004) Horm Res 62:197
Saugier‐Veber (2007) Hum Mutat 28:1098
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Tong (2005) Chin Med J (Engl) 118:1499
Tatton‐Brown (2005) Am J Hum Genet 77:193
Saugier‐Veber (2007) Hum Mutat 28:1098
Kotilainen (2009) Am J Med Genet A 149A:2409
Turkmen (2003) Eur J Hum Genet 11:858
Tatton‐Brown (2005) Am J Hum Genet 77:193
Tatton‐Brown (2005) Am J Hum Genet 77:193
Kurotaki (2003) Hum Mutat 22:378
Tatton‐Brown (2005) Am J Hum Genet 77:193
Saugier‐Veber (2007) Hum Mutat 28:1098
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
de Boer (2004) Horm Res 62:197
Fickie (2011) Am J Med Genet A 155:2105
de Boer (2004) Horm Res 62:197
Nicita (2011) J Genet 90:147
Douglas (2003) Am J Hum Genet 72:132
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Tatton‐Brown (2005) Am J Hum Genet 77:193
Douglas (2003) Am J Hum Genet 72:132
Tatton‐Brown (2005) Am J Hum Genet 77:193
de Boer (2004) Horm Res 62:197
PubMed 12464997
PubMed 19039236
PubMed 15942875
PubMed 22924495
PubMed 22924495
PubMed 15942875
PubMed 22012791
PubMed 12464997
PubMed 12807965
PubMed 17565729
PubMed 17565729
PubMed 15720303
PubMed 15452385
PubMed 17565729
PubMed 22924495
PubMed 14517949
PubMed 14517949
PubMed 14571271
PubMed 15942875
PubMed 15942875
PubMed 17565729
PubMed 14627693
PubMed 22924495
PubMed 15942875
PubMed 12464997
PubMed 12464997
PubMed 14571271
PubMed 17565729
PubMed 15452385
PubMed 17565729
PubMed 22924495
PubMed 16232326
PubMed 15942875
PubMed 17565729
PubMed 19876911
PubMed 14571271
PubMed 15942875
PubMed 15942875
PubMed 14517949
PubMed 15942875
PubMed 17565729
PubMed 22924495
PubMed 22924495
PubMed 15452385
PubMed 21834047
PubMed 15452385
PubMed 21677402
PubMed 12464997
PubMed 22924495
PubMed 15942875
PubMed 12464997
PubMed 15942875
PubMed 15452385
www.ngpd.it
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
NSD1
Elenco mutazioni NGPD
CM1211953
CM1211954
CM031304
CM043040
CM051589
CM052318
CM054047
CM052320
CM030080
CM032979
CM074959
CM030081
CM031305
CM054046
CM074952
CM052321
CM074966
CM052322
CM074965
CM115442
CM052323
CM074390
CM052324
CM050733
CM1211955
CM052325
CM043041
CM074950
CM1211959
CM056664
CM054048
CM052326
CM1211956
CM052327
CM030262
CM052328
CM052329
CM050734
CM052330
CM054049
CM052331
CM052332
CM052333
CM052334
CM032980
CM095044
CM052335
CM052336
CM030082
CM052337
CM043042
CM052338
CM130919
GGT‐GTT
ATA‐ACA
CGA‐CAA
CGA‐GGA
CGA‐TGA
CAA‐TAA
TAT‐CAT
TAT‐TCT
CGA‐CAA
CGA‐TGA
GCT‐GTT
CGG‐CAG
CGG‐TGG
AAT‐AGT
CAT‐CGT
TGT‐CGT
TGT‐TAT
CAG‐TAG
TGG‐TTG
CGT‐TGT
GGC‐GAC
ACC‐ATC
TAC‐TGC
TGT‐CGT
GCC‐GAC
TGC‐TAC
TTG‐GTG
GAA‐TAA
CAG‐TAG
CGA‐TGA
GAT‐GGT
TGT‐CGT
AAA‐GAA
TAC‐AAC
CAC‐CAG
CAC‐TAC
TGT‐CGT
CGA‐CAA
CGA‐TGA
GAA‐TAA
TGT‐TAT
CAT‐CGT
TGT‐CGT
TGT‐TAT
TGC‐CGC
TGT‐AGT
TGC‐TAC
TTT‐ATT
TGT‐TCT
CGA‐TGA
TGT‐CGT
CAT‐CGT
CAT‐TAT
Gly1973Val
Ile1976Thr
Arg1984Gln
Arg1984Gly
Arg1984Term
Gln1989Term
Tyr1997His
Tyr1997Ser
Arg2005Gln
Arg2005Term
Ala2009Val
Arg2017Gln
Arg2017Trp
Asn2020Ser
His2021Arg
Cys2027Arg
Cys2027Tyr
Gln2030Term
Trp2032Leu
Arg2039Cys
Gly2041Asp
Thr2055Ile
Tyr2058Cys
Cys2072Arg
Ala2074Asp
Cys2077Tyr
Leu2081Val
Glu2094Term
Gln2110Term
Arg2117Term
Asp2119Gly
Cys2124Arg
Lys2140Glu
Tyr2142Asn
His2143Gln
His2143Tyr
Cys2146Arg
Arg2152Gln
Arg2152Term
Glu2158Term
Cys2159Tyr
His2162Arg
Cys2164Arg
Cys2164Tyr
Cys2167Arg
Cys2175Ser
Cys2178Tyr
Phe2182Ile
Cys2183Ser
Arg2187Term
Cys2202Arg
His2205Arg
His2205Tyr
5918G>T
5927T>C
5951G>A
5950C>G
5950C>T
5965C>T
5989T>C
5990A>C
6014G>A
6013C>T
6026C>T
6050G>A
6049C>T
6059A>G
6062A>G
6079T>C
6080G>A
6088C>T
6095G>T
6115C>T
6122G>A
6164C>T
6173A>G
6214T>C
6221C>A
6230G>A
6241T>G
6280G>T
6328C>T
6349C>T
6356A>G
6370T>C
6418A>G
6424T>A
6429C>G
6427C>T
6436T>C
6455G>A
6454C>T
6472G>T
6476G>A
6485A>G
6490T>C
6491G>A
6499T>C
6523T>A
6533G>A
6544T>A
6548G>C
6559C>T
6604T>C
6614A>G
6613C>T
G1973V
I1976T
R1984Q
R1984G
R1984*
Q1989*
Y1997H
Y1997S
R2005Q
R2005*
A2009V
R2017Q
R2017W
N2020S
H2021R
C2027R
C2027Y
Q2030*
W2032L
R2039C
G2041D
T2055I
Y2058C
C2072R
A2074D
C2077Y
L2081V
E2094*
Q2110*
R2117*
D2119G
C2124R
K2140E
Y2142N
H2143Q
H2143Y
C2146R
R2152Q
R2152*
E2158*
C2159Y
H2162R
C2164R
C2164Y
C2167R
C2175S
C2178Y
F2182I
C2183S
R2187*
C2202R
H2205R
H2205Y
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Sotos syndrome
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Rio (2003) J Med Genet 40:436
de Boer (2004) Horm Res 62:197
Cecconi (2005) Am J Med Genet 134A:247
Tatton‐Brown (2005) Am J Hum Genet 77:193
Waggoner (2005) Genet Med 7:524
Tatton‐Brown (2005) Am J Hum Genet 77:193
Douglas (2003) Am J Hum Genet 72:132
Turkmen (2003) Eur J Hum Genet 11:858
Saugier‐Veber (2007) Hum Mutat 28:1098
Douglas (2003) Am J Hum Genet 72:132
Rio (2003) J Med Genet 40:436
Waggoner (2005) Genet Med 7:524
Saugier‐Veber (2007) Hum Mutat 28:1098
Tatton‐Brown (2005) Am J Hum Genet 77:193
Saugier‐Veber (2007) Hum Mutat 28:1098
Tatton‐Brown (2005) Am J Hum Genet 77:193
Saugier‐Veber (2007) Hum Mutat 28:1098
Donnelly (2011) Clin Dysmorphol epub:epub
Tatton‐Brown (2005) Am J Hum Genet 77:193
Duno (2007) Ann Hum Genet 71:713
Tatton‐Brown (2005) Am J Hum Genet 77:193
Melchior (2005) Ann Hum Genet 69:222
Pohjola (2012) Genet Test Mol Biomarkers 16:1188
Tatton‐Brown (2005) Am J Hum Genet 77:193
de Boer (2004) Horm Res 62:197
Saugier‐Veber (2007) Hum Mutat 28:1098
Pohjola (2012) Genet

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ELENCO PATOLOGIE GENI MUTAZIONI 28 10 2014.xlsx

Liste de références VUL 2014

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