Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.
about
Complexity and diversity of F8 genetic variations in the 1000 genomesCompound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093IleMolecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.T-cell responses in two unrelated hemophilia A inhibitor subjects include an epitope at the factor VIII R593C missense site.Identification of novel mutations in exon 14 of the f8 gene in malaysian patients with severe hemophilia a.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.Inhibitors of factor VIII in black patients with hemophiliaFirst molecular analysis of F8 gene in algeria: identification of two novel mutations.Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity.Differential contributions of Glu96, Asp102 and Asp111 to coagulation factor V/Va metal ion binding and subunit stability.Mutational Profiles of and in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population
P2860
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P2860
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
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2007年學術文章
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name
Factor VIII (FVIII) gene mutat ...... h FVIII inhibitor development.
@en
type
label
Factor VIII (FVIII) gene mutat ...... h FVIII inhibitor development.
@en
prefLabel
Factor VIII (FVIII) gene mutat ...... h FVIII inhibitor development.
@en
P2093
P2860
P921
P1476
Factor VIII (FVIII) gene mutat ...... h FVIII inhibitor development.
@en
P2093
Borel-Derlon A
Ferrandiz D
Lavergne JM
P2860
P304
P356
10.1111/J.1538-7836.2007.02591.X
P577
2007-04-18T00:00:00Z