Article
Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma.
Journal of thrombosis and haemostasis : JTH - 1 May 2011
Castoldi E, Duckers C, Radu C, Spiezia L, Rossetto V, Tagariello G, Rosing J, Simioni P
Abstract excerpt
BACKGROUND: Coagulation factor (F) V deficiency is associated with a bleeding tendency of variable severity, but phenotype determinants are largely unknown. Recently, we have shown that three patients with undetectable plasma FV and mild bleeding symptoms had sufficient residual platelet FV to support thrombin generation in platelet-rich plasma (PRP). Therefore, we hypothesized that FV-deficient patients with...
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