Article
An Arg545----Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease.
European journal of haematology - 1 Nov 1991
Donnér M, Andersson A M, Kristoffersson A C, Nilsson I M, Dahlbäck B, Holmberg L
Abstract excerpt
Type IIB is a special variant of von Willebrand's disease, characterized by an abnormal von Willebrand factor which shows an increased interaction with platelets. This interaction sometimes causes platelet aggregation and thrombocytopenia in vivo. It involves the glycoprotein-Ib (GPIb) receptor o...
Topics
- Adult
- Aged
- Arginine
- Base Sequence
- Codon
- Cysteine
- DNA Probes
- Family Health
- Humans
- Male
- Molecular Sequence Data
- Mutation
- von Willebrand Diseases
- von Willebrand Factor