×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
Biomarker
CLINGEN
Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.
30210749
2018
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
Biomarker
CLINGEN
: Defects in the coagulation factor VIII gene cause haemophilia A , which is the most common X-linked recessive bleeding disorder.
28252515
2017
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Factor VIII Antigen, Activity, and Mutations in Hemophilia A.
25550078
2016
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity.
26278069
2015
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.
21371196
2011
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.
18184865
2008
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
Biomarker
GENOMICS_ENGLAND
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.
18217193
2008
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
We report the case of a female HA patient with a moderate decrease of factor (F) VIII activity and antigen (FVIII :C 3.4%, FVIII :Ag 4.2%) and severe bleeding symptoms.
16805874
2006
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
Biomarker
CLINGEN
We report the case of a female HA patient with a moderate decrease of factor (F) VIII activity and antigen (FVIII :C 3.4%, FVIII :Ag 4.2%) and severe bleeding symptoms.
16805874
2006
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
Biomarker
CTD_human
Aminoglycoside suppression of nonsense mutations in severe hemophilia.
16051741
2005
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations.
15682412
2005
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Each novel missense mutation occurred at a highly conserved residue, no other candidate mutation was detected on screening the entire coding region of the FVIII gene and they were not detected in a screen of individuals without haemophilia A .
15810915
2005
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
To study genotype and phenotype correlation of haemophilia A in Thai patients, molecular defects of the factor VIII (FVIII ) gene were examined and their correlation with clinical phenotypes were evaluated.
12614369
2003
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Analysis of 18 novel mutations in the factor VIII gene.
12930394
2003
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Our objective was to identify defects in the gene of FVIII by a sensitive and simple scanning technique with high throughput in order to study molecular mechanisms by which novel amino acid substitutions may lead to hemophilia A .
12871415
2003
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
Biomarker
CLINGEN
Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing.
12847523
2003
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
Biomarker
CTD_human
Factor VIII inhibitor in a patient with mild haemophilia A and an Asn618-->Ser mutation responsive to immune tolerance induction and cyclophosphamide.
11918545
2002
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.
11858487
2002
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
This patient was previously assumed to be a carrier of haemophilia A due to her FVIII deficiency.
12406074
2002
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Hemophilia A is a bleeding disorder caused by a quantitative or qualitative deficiency in the coagulation factor VIII .
11857744
2002
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Three novel point mutations causing haemophilia A.
12199686
2002
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
11 hemophilia A patients without mutations in the factor VIII encoding gene.
12195713
2002
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Identification of seven novel mutations of F8C by DHPLC.
12203998
2002
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
12351418
2002
×
Entrez Id:
2157
Gene Symbol:
F8
F8
Hemophilia A
1.000
GeneticVariation
UNIPROT
High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.
12325022
2002