title: Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease.
abstract: A recurrent heterozygous CGG-->CAG (Arg578Gln) mutation was detected in exon 28 of the von Willebrand factor gene in three additional unrelated families with inherited type IIB von Willebrand disease. This identical mutation showed a differential phenotypic expression in each family.
authors.affiliation: INSERM U. 143, Hôpital de Bicêtre.
authors.forename: Y C
authors.initials: YC
authors.lastname: Piao
authors.forename: J M
authors.initials: JM
authors.lastname: Lavergne
authors.forename: C
authors.initials: C
authors.lastname: Boyer-Neumann
authors.forename: A
authors.initials: A
authors.lastname: Schandelong
authors.forename: M C
authors.initials: MC
authors.lastname: Alessi
authors.forename: D
authors.initials: D
authors.lastname: Meyer
mesh_terms: D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D018076:DNA, Complementary / Q000737:chemistry; D005260:Female; D005973:Glutamine / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D014842:von Willebrand Diseases / Q000097:blood / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D014841:von Willebrand Factor; D005973:Glutamine; D001120:Arginine