Article
Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA.
Thrombosis and haemostasis - 1 May 2005
Xie Jingli, Pabón Dina, Jayo Asier, Butta Nora, González-Manchón Consuelo
Abstract excerpt
We report a novel genetic defect in a patient with type I Glanzmann thrombasthenia. Flow cytometry analysis revealed undetectable levels of platelet glycoproteins alphaIIb and beta3, although residual amounts of both proteins were detectable in immunoblotting analysis. Sequence analysis of reversely transcribed platelet beta3 mRNA showed a 100-base pair deletion in the 3'-boundary of exon 11, that results in a...
Topics
- Alleles
- Alternative Splicing
- Animals
- Antibodies, Monoclonal
- Blood Platelets
- CHO Cells
- Child, Preschool
- Codon, Nonsense
- Codon, Terminator
- Cricetinae
- DNA
- Exons
- Family Health
- Fathers