title: A de novo mutation in exon 28 of the von Willebrand factor gene in a patient with type IIA von Willebrand's disease coincides with an MboI polymorphism in the von Willebrand factor pseudogene.
authors.affiliation: Department of Medicine and Pharmacology, Royal Hallamshire Hospital, Sheffield, UK.
authors.forename: M
authors.initials: M
authors.lastname: Pérez-Casal
authors.forename: M
authors.initials: M
authors.lastname: Daly
authors.forename: I
authors.initials: I
authors.lastname: Peake
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011544:Pseudogenes; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D017931:DNA Primers; D014841:von Willebrand Factor; D015252:Deoxyribonucleases, Type II Site-Specific; C024405:GATC-specific type II deoxyribonucleases