Article
A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor.
Thrombosis and haemostasis - 1 May 2001
Goodeve A C, Eikenboom J C, Ginsburg D, Hilbert L, Mazurier C, Peake I R, Sadler J E, Rodeghiero F
Abstract excerpt
Examination of the entire von Willebrand factor (VWF) gene for mutations, particularly in types 1 and 3 von Willebrand disease (VWD) is becoming more widely practised. The sequence of the entire VWF gene will soon be compiled as a single sequence. For these reasons, a clearly defined nomenclature to use for numbering the VWF nucleotide and amino acid sequence is required. The following recommendations are made...
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