Article
Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.
Blood - 15 Jul 2001
van Wijk R, Nieuwenhuis K, van den Berg M, Huizinga E G, van der Meijden B B, Kraaijenhagen R J, van Solinge W W
Abstract excerpt
Coagulation factor V (FV) plays an important role in maintaining the hemostatic balance in both the formation of thrombin in the procoagulant pathway as well as in the protein C anticoagulant pathway. FV deficiency is a rare bleeding disorder with variable phenotypic expression. Little is known about the molecular basis underlying this disease. This study identified 5 novel mutations associated with FV deficiency...
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