title: Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease.
abstract: Type 1 is the most frequent form of von Willebrand's disease, which is characterized by a quantitative partial deficiency of von Willebrand's factor. At present, only two mutations located in the D3 domain (C1149R, C1130F) have been reported to cause the classic type 1 variant. The 3467C>T transition that predicts the T1156M amino acid change was detected in seven patients from one family and was not found in 110 normal alleles screened. This is a candidate mutation to cause dominant type 1 variant with complete penetrance. On the other hand, neither of the two mutations mentioned above has been detected in the other 15 families studied with type 1 or possible type 1 patients.
authors.affiliation: Unidad de Coagulopatías Congénitas de la Comunidad Valenciana, Hospital Universitari La Fe, Valencia, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Casaña
authors.forename: F
authors.initials: F
authors.lastname: Martínez
authors.forename: S
authors.initials: S
authors.lastname: Haya
authors.forename: C
authors.initials: C
authors.lastname: Espinós
authors.forename: J A
authors.initials: JA
authors.lastname: Aznar
mesh_terms: D000483:Alleles; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012016:Reference Values; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor