Ontology highlight
ABSTRACT:
SUBMITTER: Macieira S
PROVIDER: S-EPMC3122970 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Macieira Susana S Lussier Jacques J Bédard Christian C
Canadian journal of veterinary research = Revue canadienne de recherche veterinaire 20110701 3
Glanzmann thrombasthenia (GT) is characterized by a defect of platelet aggregation. This autosomal recessive genetic disorder is caused by an abnormality of the platelet glycoprotein receptors alpha IIb or beta III. Recently, we identified a horse with clinical and pathological features of GT. The aim of this study was to describe this case of GT at the molecular level. A point mutation from G to C in exon 2 of ITGA2B causing a substitution of the expected amino acid arginine 72 (Arg(72)) by a p ...[more]