Article
Identification of an abnormal gene for the GPIIIa subunit of the platelet fibrinogen receptor resulting in Glanzmann's thrombasthenia.
Blood - 15 Feb 1990
Bray P F, Shuman M A
Abstract excerpt
The platelet fibrinogen receptor, which is composed of glycoproteins IIb (GPIIb) and IIIa (GPIIIa), belongs to a large family of receptors that participate in a multitude of biologically important adhesive interactions. Platelets from most patients with the autosomal recessive bleeding disorder, Glanzmann's thrombasthenia, are deficient in GPIIb and GPIIIa. We have used cDNA probes to analyze the GPIIb and GPIIIa...
Topics
- Blood Platelet Disorders
- Blotting, Southern
- Chromosome Deletion
- DNA
- Female
- Humans
- Integrin alpha2
- Male
- Membrane Glycoproteins
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length