Article
Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 1 Mar 1990
Ware J, Russell S R, Vicente V, Scharf R E, Tomer A, McMillan R, Ruggeri Z M
Abstract excerpt
Three distinct gene products, the alpha and beta chains of glycoprotein (GP) Ib and GP IX, constitute the platelet membrane GP Ib-IX complex, a receptor for von Willebrand factor and thrombin involved in platelet adhesion and aggregation. Defective function of the GP Ib-IX complex is the hallmark...
Topics
- Adult
- Base Sequence
- Bernard-Soulier Syndrome
- Blood Platelet Disorders
- DNA
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Pedigree
- Platelet Membrane Glycoproteins
- Polymerase Chain Reaction
- Restriction Mapping