Article
Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations.
Blood - 27 Aug 2009
Dumont Bénédicte, Lasne Dominique, Rothschild Chantal, Bouabdelli Maxime, Ollivier Véronique, Oudin Claire, Ajzenberg Nadine, Grandchamp Bernard, Jandrot-Perrus Martine
Abstract excerpt
The glycoprotein VI (GPVI)/FcRgamma complex is a key receptor for platelet activation by collagen. We describe, for the first time, 2 genetic abnormalities in one patient. This 10-year-old girl presented ecchymoses since infancy, a prolonged bleeding time despite a normal platelet count and no antiplatelet antibodies. Collagen-induced platelet activation was null, whereas GPVI quantification by flow cytometry...
Topics
- Alleles
- Blood Platelets
- Child
- Codon
- Collagen
- Exons
- Female
- Humans
- Introns
- Mutation
- Phenotype
- Platelet Activation
- Platelet Membrane Glycoproteins
- RNA, Messenger
- Receptors, Fc