Article
The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor.
Blood - 1 Feb 1992
Jorieux S, Tuley E A, Gaucher C, Mazurier C, Sadler J E
Abstract excerpt
von Willebrand factor (vWF) and factor VIII (FVIII) circulate in plasma as a noncovalently linked protein complex. The FVIII/vWF interaction is required for the stabilization of procoagulant FVIII activity. Recently, we reported a new variant of von Willebrand disease (vWD) tentatively named "Normandy," characterized by plasma vWF that appears to be structurally and functionally normal except that it does not...
Topics
- Base Sequence
- Binding Sites
- DNA Mutational Analysis
- Factor VIII
- Humans
- Macromolecular Substances
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Recombinant Proteins
- Structure-Activity Relationship