Article
Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.
American journal of human genetics - 1 Oct 1992
Zhang Z P, Lindstedt M, Falk G, Blombäck M, Egberg N, Anvret M
Abstract excerpt
von Willebrand disease (vWD) is the most common inherited bleeding disorder in humans. The disease is caused by qualitative and quantitative abnormalities of the von Willebrand factor (vWF). Genomic DNA from 25 patients with vWD type III, the most severe form of the disease, was studied using PCR...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Child
- DNA
- Exons
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Pedigree
- Polymerase Chain Reaction
- Restriction Mapping
- von Willebrand Diseases