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Article

Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.

Blood - 15 Mar 1994

Lyons S E, Cooney K A, Bockenstedt P, Ginsburg D

Abstract excerpt

Type IIA von Willebrand disease (vWD) is an autosomal dominant bleeding disorder characterized by a qualitative defect in von Willebrand factor (vWF). A number of missense mutations responsible for type IIA vWD have recently been identified. This report examines the type IIA vWD mutations Leu777-->Pro and Ile865-->Thr by expression of recombinant vWF containing mutant and wild-type (WT) sequences. Recombinant vWF...

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PMID: 8123844

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Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.PMID 8123844Read ↗

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