Molecular etiology of factor VIII deficiency in hemophilia A

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

Research output: Contribution to journalReview article

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 with severe hemophilia A. This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance.

Original languageEnglish (US)
Pages (from-to)1-22
Number of pages22
JournalHuman Mutation
Volume5
Issue number1
DOIs
Publication statusPublished - 1995
Externally publishedYes

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Keywords

  • Factor VIII gene
  • Hemophilia A
  • Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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