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Article

The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2009

Sutherland M S, Keeney S, Bolton-Maggs P H B, Hay C R M, Will A, Cumming A M

Abstract excerpt

Type 3 von Willebrand disease (VWD) is a severe autosomal recessive inherited bleeding disorder. In affected individuals the underlying von Willebrand factor gene (VWF) mutations frequently remain uncharacterized. The aim of this study was to investigate the molecular basis of type 3 VWD in patients (11 Caucasians and 9 of Asian origin) attending the haemophilia centres at Central Manchester NHS Trust. A...

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PMID: 19601990
DOI: 10.1111/j.1365-2516.2009.02059.x

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VWF
NHS

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