rs28937282
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: haemophilia A.
|
21654722 |
2011 |
rs137852358
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Also, the only female patient with severe HA was found to have heterozygous non-sense mutation (c.6683G>A) of exon 24.
|
20236351 |
2010 |
rs137852374
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We report a novel rare missense variant (P2311S) in a haemophilia A family that was mistakenly considered as pathogenic leading to amniocentesis, prenatal diagnosis and influenced the peripartal management of the putatively affected child.
|
19404520 |
2009 |
rs111033615
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Three novel point mutations causing haemophilia A.
|
12199686 |
2002 |
rs111033615
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
|
12351418 |
2002 |
rs111033615
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
11 hemophilia A patients without mutations in the factor VIII encoding gene.
|
12195713 |
2002 |
rs111033615
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations of F8C by DHPLC.
|
12203998 |
2002 |
rs137852403
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
11 hemophilia A patients without mutations in the factor VIII encoding gene.
|
12195713 |
2002 |
rs137852403
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
|
12351418 |
2002 |
rs137852403
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations of F8C by DHPLC.
|
12203998 |
2002 |
rs137852403
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Three novel point mutations causing haemophilia A.
|
12199686 |
2002 |
rs137852406
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
11 hemophilia A patients without mutations in the factor VIII encoding gene.
|
12195713 |
2002 |
rs137852406
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
|
12351418 |
2002 |
rs137852406
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Three novel point mutations causing haemophilia A.
|
12199686 |
2002 |
rs137852406
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations of F8C by DHPLC.
|
12203998 |
2002 |
rs137852410
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
11 hemophilia A patients without mutations in the factor VIII encoding gene.
|
12195713 |
2002 |
rs137852410
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
|
12351418 |
2002 |
rs137852410
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Three novel point mutations causing haemophilia A.
|
12199686 |
2002 |
rs137852410
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations of F8C by DHPLC.
|
12203998 |
2002 |
rs137852428
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations of F8C by DHPLC.
|
12203998 |
2002 |
rs137852428
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
|
12351418 |
2002 |
rs137852428
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Three novel point mutations causing haemophilia A.
|
12199686 |
2002 |
rs137852428
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
11 hemophilia A patients without mutations in the factor VIII encoding gene.
|
12195713 |
2002 |
rs137852431
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations of F8C by DHPLC.
|
12203998 |
2002 |
rs137852431
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
|
12351418 |
2002 |