title: A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation.
authors.forename: M S
authors.initials: MS
authors.lastname: Enayat
authors.forename: A M
authors.initials: AM
authors.lastname: Guilliatt
authors.forename: P E
authors.initials: PE
authors.lastname: Short
authors.forename: G
authors.initials: G
authors.lastname: Rastegar-Lari
authors.forename: M
authors.initials: M
authors.lastname: Jazebi
authors.forename: S
authors.initials: S
authors.lastname: Ravonbod
authors.forename: F
authors.initials: F
authors.lastname: Ala
authors.forename: O G
authors.initials: OG
authors.lastname: Chapman
authors.forename: F G H
authors.initials: FG
authors.lastname: Hill
mesh_terms: D024361:Amino Acids, Basic / Q000235:genetics*; D000598:Amino Acids, Cyclic / Q000235:genetics*; D044466:Asian People; D005091:Exons; D005169:Factor VIII / Q000032:analysis; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D006113:United Kingdom; D056728:von Willebrand Disease, Type 2 / Q000235:genetics*; D014841:von Willebrand Factor / Q000032:analysis / Q000235:genetics*
chemical_list: D024361:Amino Acids, Basic; D000598:Amino Acids, Cyclic; D014841:von Willebrand Factor; D005169:Factor VIII