Molecular etiology of factor VIII deficiency in hemophilia A

Stylianos E. Antonarakis; Haig H. Kazazian; Edward G.D. Tuddenham

doi:10.1002/humu.1380050102

Molecular etiology of factor VIII deficiency in hemophilia A

Stylianos E. Antonarakis, Haig H. Kazazian, Edward G.D. Tuddenham

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98 Scopus citations

Abstract

Hemophilia is a common X‐linked coagulation disorder due to deficiency of factor VIII. The factor VIII gene has been cloned in 1984 and a large number of mutations that cause hemophilia A have been identified in the last decade. The most common of the mutations is an inversion of factor VIII that accounts for nearly 45% of patients vvith severe hemophilia A. This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance. © 1995 Wiley‐Liss, Inc.

Original language	English (US)
Pages (from-to)	1-22
Number of pages	22
Journal	Human mutation
Volume	5
Issue number	1
DOIs	https://doi.org/10.1002/humu.1380050102
State	Published - 1995
Externally published	Yes

Keywords

Factor VIII gene
Hemophilia A
Mutation

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.1380050102

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AU - Kazazian, Haig H.

AU - Tuddenham, Edward G.D.

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AB - Hemophilia is a common X‐linked coagulation disorder due to deficiency of factor VIII. The factor VIII gene has been cloned in 1984 and a large number of mutations that cause hemophilia A have been identified in the last decade. The most common of the mutations is an inversion of factor VIII that accounts for nearly 45% of patients vvith severe hemophilia A. This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance. © 1995 Wiley‐Liss, Inc.

KW - Factor VIII gene

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KW - Mutation

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Molecular etiology of factor VIII deficiency in hemophilia A

Abstract

Keywords

ASJC Scopus subject areas

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