Article
Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.
The Journal of clinical investigation - 1 Apr 1991
Randi A M, Rabinowitz I, Mancuso D J, Mannucci P M, Sadler J E
Abstract excerpt
Many variants of von Willebrand disease (vWD) with qualitatively abnormal von Willebrand factor (vWF) are recognized. In vWD type IIB, the abnormal protein displays enhanced affinity for a platelet vWF receptor, the glycoprotein Ib-IX complex. 14 patients from 7 unrelated families with vWD type IIB were studied to determine the molecular basis for this phenotype. Specific oligonucleotide primers were used to...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Disulfides
- Genes, Dominant
- Humans
- Molecular Sequence Data
- Mutation
- Oligonucleotides
- Platelet Membrane Glycoproteins