Article
A standard nomenclature for von Willebrand factor gene mutations and polymorphisms.
Best practice & research. Clinical haematology - 1 Jun 2001
Goodeve A, Peake I
Abstract excerpt
Mutations in the von Willebrand factor gene responsible for von Willebrand disease, in particular those responsible for type 2 von Willebrand disease, are being increasingly identified. The plethora of mutation screening techniques now available and their enhanced sample throughput capability is also enabling an increasing number of investigations in patients with types 1 and 3 disease. An unambiguous von...
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