Article
Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.
Blood - 1 Jul 1998
Kenny D, Jónsson O G, Morateck P A, Montgomery R R
Abstract excerpt
The platelet GPIb-V-IX complex is the receptor for the initial binding of von Willebrand factor (vWF) mediating platelet adhesion. The complex is composed of four membrane-spanning glycoproteins (GP): GPIbalpha, GPIbbeta, GPIX, and GPV. Bernard-Soulier syndrome results from a qualitative or quant...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Binding Sites
- CHO Cells
- Child, Preschool
- Cricetinae
- Female
- Heterozygote
- Humans
- Ligands
- Male
- Molecular Sequence Data
- Mutation
- Platelet Glycoprotein GPIb-IX Complex
- Protein Binding