title: First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene.
authors.forename: L
authors.initials: L
authors.lastname: Hilbert
authors.forename: R
authors.initials: R
authors.lastname: D'Oiron
authors.forename: E
authors.initials: E
authors.lastname: Fressinaud
authors.forename: D
authors.initials: D
authors.lastname: Meyer
authors.forename: C
authors.initials: C
authors.lastname: Mazurier
mesh_terms: D000328:Adult; D000818:Animals; D019556:COS Cells; D004305:Dose-Response Relationship, Drug; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D017434:Protein Structure, Tertiary; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor