Article
Biochemical and molecular basis of Glanzmann's thrombasthenia.
Haematologica - 1 Jan 2000
Perutelli P, Mori P G
Abstract excerpt
Glanzmann's thrombasthenia is a rare autosomal recessive bleeding disorder characterized by a quantitative deficiency or a functional abnormality of the major platelet membrane integrin receptor: the glycoprotein (GP) IIb/IIIa complex. The GPIIb/IIIa complex functions as a platelet receptor for fibrinogen, von Willebrand factor, fibronectin and vitronectin; therefore it plays an important role in platelet...
Topics
- Chromosome Deletion
- Female
- Gene Expression Regulation
- Genes, Recessive
- Hemorrhagic Disorders
- Humans
- Male
- Mutation
- Platelet Adhesiveness
- Platelet Aggregation
- Platelet Membrane Glycoproteins
- Thrombasthenia
