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A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor.

Abstract：

: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 for VWF numbering. VWF cDNA nucleotide sequence should be numbered from the A of the initiator ATG as the +1 position. Genomic DNA should be prefixed with a "g" and also numbered from this position. Amino acid (aa) numbering should be from the initiator methionine as the +1 position with sequential numbering of aa throughout VWF. To avoid confusion with previously used numbering schemes for mature VWF, which started from serine 764 of pre-pro VWF, the use of the single letter amino acid code is recommended.

journal_name

Thromb Haemost

journal_title

Thrombosis and haemostasis

authors

Goodeve AC,Eikenboom JC,Ginsburg D,Hilbert L,Mazurier C,Peake IR,Sadler JE,Rodeghiero F,ISTH SSC Subcommittee on von Willebrand factor.

keywords:

subject

Has Abstract

pub_date

2001-05-01 00:00:00

pages

929-31

issue

5

eissn

0340-6245

issn

2567-689X

pii

01050929

journal_volume

85

pub_type

指南,杂志文章

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