Article
Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A.
Proceedings of the National Academy of Sciences of the United States of America - 15 Jul 1991
Tuley E A, Gaucher C, Jorieux S, Worrall N K, Sadler J E, Mazurier C
Abstract excerpt
von Willebrand disease Normandy (vWD Normandy) is a recently described phenotype in which a mutant von Willebrand factor (vWF) appears structurally and functionally normal except that it does not bind to blood coagulation factor VIII. This interaction is required for normal survival of factor VII...
Topics
- Animals
- Base Sequence
- Cell Line
- Factor VIII
- Hemophilia A
- Humans
- Kinetics
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Phenotype
- Plasmids