Article
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
The Journal of clinical investigation - 15 Oct 1996
Jin Y, Dietz H C, Montgomery R A, Bell W R, McIntosh I, Coller B, Bray P F
Abstract excerpt
Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was identified as homozygous for a G-->A mutation 6 bp upstream of the GP(IIIa) exon 9 splice donor s...
Topics
- Adult
- Chromosomes, Human, Pair 17
- Exons
- Female
- Humans
- Mutation
- Platelet Glycoprotein GPIIb-IIIa Complex
- Polymerase Chain Reaction
- RNA Splicing
- Thrombasthenia