Article
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.
The Journal of clinical investigation - 1 Apr 1991
Cooney K A, Nichols W C, Bruck M E, Bahou W F, Shapiro A D, Bowie E J, Gralnick H R, Ginsburg D
Abstract excerpt
Type IIB von Willebrand Disease (vWD) is characterized by the selective loss of large von Willebrand Factor (vWF) multimers from plasma, presumably due to their increased reactivity with platelets and subsequent clearance from the circulation. Using the PCR, one of a panel of four potential misse...
Topics
- Alleles
- Base Sequence
- Binding Sites
- Humans
- Molecular Sequence Data
- Mutation
- Oligonucleotides
- Platelet Membrane Glycoproteins
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Protein Binding