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Article scientifique
Anglais

Molecular etiology of factor VIII deficiency in hemophilia A

Publié dansHuman mutation, vol. 5, no. 1, p. 1-22
Date de publication1995
Résumé

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.

Mots-clés
  • Amino Acid Sequence
  • Base Sequence
  • Binding Sites/genetics
  • Chromosome Mapping
  • DNA/genetics
  • DNA Mutational Analysis
  • Factor VIII/chemistry/ genetics/metabolism
  • Female
  • Gene Rearrangement
  • Hemophilia A/ genetics
  • Humans
  • Male
  • Mutation
  • Point Mutation
  • Polymorphism, Genetic
  • Retroelements
  • Sequence Deletion
  • X Chromosome/ultrastructure
Citation (format ISO)
ANTONARAKIS, Stylianos, KAZAZIAN, H. H., TUDDENHAM, E. G. Molecular etiology of factor VIII deficiency in hemophilia A. In: Human mutation, 1995, vol. 5, n° 1, p. 1–22. doi: 10.1002/humu.1380050102
Identifiants
ISSN du journal1059-7794
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Informations techniques

Création12/07/2010 14:35:55
Première validation12/07/2010 14:35:55
Heure de mise à jour14/03/2023 15:53:30
Changement de statut14/03/2023 15:53:30
Dernière indexation15/01/2024 20:46:50
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