title: A standard nomenclature for von Willebrand factor gene mutations and polymorphisms.
abstract: 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 Willebrand factor nucleotide and amino acid nomenclature is now essential. In this paper, we present a uniform standard nomenclature for von Willebrand factor gene mutations and polymorphisms as approved and recommended by the International Society on Thrombosis and Haemostasis Scientific and Standardisation Committee subcommittee on von Willebrand factor.
authors.affiliation: Division of Genomic Medicine, Royal Hallamshire Hospital, Glossop Road, Sheffield, S10 2JF, UK.
authors.forename: A
authors.initials: A
authors.lastname: Goodeve
authors.forename: I
authors.initials: I
authors.lastname: Peake
mesh_terms: D004247:DNA / Q000737:chemistry / Q000235:genetics; D004251:DNA Transposable Elements; D018076:DNA, Complementary / Q000235:genetics; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D011544:Pseudogenes; D017384:Sequence Deletion; D009626:Terminology as Topic; D014842:von Willebrand Diseases / Q000235:genetics; D014841:von Willebrand Factor / Q000145:classification / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements; D018076:DNA, Complementary; D014841:von Willebrand Factor; D004247:DNA