Article
Recurring mutations at CpG dinucleotides in the region of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with type IIB von Willebrand's disease.
British journal of haematology - 1 Dec 1991
Lillicrap D, Murray E W, Benford K, Blanchette V S, Rivard G E, Wensley R, Giles A R
Abstract excerpt
The mutant von Willebrand factor (vWf) molecule in type IIB von Willebrand's disease (vWd) has an increased binding affinity for the platelet receptor glycoprotein Ib (GpIb). In previous studies we have confirmed genetic linkage of this phenotype to the vWf gene and in this report we document three recurring missense mutations in the region of the gene that encodes the GpIb binding domain. Two families with type...
Topics
- Alleles
- Base Sequence
- Codon
- Dinucleoside Phosphates
- Exons
- Genes
- Humans
- Molecular Sequence Data
- Mutation
- Platelet Membrane Glycoproteins
- von Willebrand Diseases