Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency.

Abstract excerpt

To date, few mutations associated with a dominant quantitative deficiency of von Willebrand factor (VWF) and a high penetrance have been reported. This phenotype was confirmed in seven unrelated families of several patients diagnosed with von Willebrand's disease out of 70 who requested genetic studies of the VWF gene. The mutations linked to this type were identified: R1205H in five families; T1156M in one...

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