Article
A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by preventing alphaIIb beta3 export to the platelet surface.
Blood - 15 Oct 1997
Basani R B, Brown D L, Vilaire G, Bennett J S, Poncz M
Abstract excerpt
We report a case of Glanzmann thrombasthenia in a Pakistani child whose platelets express less than 10% of the normal amount of alphaIIb beta3 on their surface. Single-stranded conformation polymorphism analysis of the exons of the patient's alphaIIb and beta3 genes showed an abnormality in exon 4 of the beta3 gene. Direct sequence analysis showed that the patient was homozygous for a T --> G nucleotide...
Read the complete abstract on PubMedTopics
- Alleles
- Amino Acid Sequence
- Animals
- Blood Platelets
- COS Cells
- Flow Cytometry
- Humans