en
Scientific article
English

Molecular genetics of coagulation factor VIII gene and hemophilia A

Published inThrombosis and haemostasis, vol. 74, no. 1, p. 322-328
Publication date1995
Abstract

This review summarizes the structure of human coagulation factor VIII gene and its deduced protein sequence and the molecular etiology of hemophilia A in man. The gross DNA rearrangements including the common inversions of factor VIII (which account for about 45% of severe hemophilia A patients), and the point mutations are discussed. The functional consequences of certain missense mutations are illustrated.

Keywords
  • Animals
  • Chromosome Inversion
  • DNA/genetics
  • Exons
  • Factor VIII/ genetics/metabolism
  • Hemophilia A/ genetics
  • Humans
  • Male
  • Mice
  • Mice, Knockout
  • Point Mutation
  • Polymerase Chain Reaction
Citation (ISO format)
ANTONARAKIS, Stylianos. Molecular genetics of coagulation factor VIII gene and hemophilia A. In: Thrombosis and haemostasis, 1995, vol. 74, n° 1, p. 322–328.
Identifiers
ISSN of the journal0340-6245
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