Molecular genetics of coagulation factor VIII gene and hemophilia A
|Published in||Thrombosis and Haemostasis. 1995, vol. 74, no. 1, p. 322-328|
|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|
This document has no fulltext available yet, but you can contact its author by using the form below.
|ANTONARAKIS, Stylianos. Molecular genetics of coagulation factor VIII gene and hemophilia A. In: Thrombosis and Haemostasis, 1995, vol. 74, n° 1, p. 322-328. https://archive-ouverte.unige.ch/unige:9128|