Article
A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype.
Blood - 15 Oct 2001
Ruiz C, Liu C Y, Sun Q H, Sigaud-Fiks M, Fressinaud E, Muller J Y, Nurden P, Nurden A T, Newman P J, Valentin N
Abstract excerpt
This article reports a Glanzmann thrombasthenia (GT) patient, N.M., with a point mutation in the third cysteine-rich repeat of beta3-integrin or platelet glycoprotein (GP) IIIa, leading to the expression of a constitutively activated fibrinogen receptor. The diagnosis of GT was based on a severely reduced platelet-aggregation response to a series of agonists and approximately 20% of surface-expressed GPIIb-IIIa....
Topics
- Adult
- Blood Platelets
- Blotting, Western
- Cell Adhesion
- Cysteine
- Flow Cytometry
- Gene Expression Regulation
- Humans
- Kidney Transplantation
- Male