Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors

• Published in: Hämostaseologie Vol. 30; no. 1; p. 29
• Main Authors: Watson, S, Daly, M, Dawood, B, Gissen, P, Makris, M, Mundell, S, Wilde, J, Mumford, A
• Format: Journal Article
• Language: English
• Published: Germany 01.01.2010
• Subjects: Blood Platelet Disorders - genetics; Chromosome Mapping - methods; Gene Expression Regulation; Genetic Association Studies; Hemorrhage - blood; Hemorrhage - genetics; Humans; Phenotype; Platelet Membrane Glycoproteins - genetics; Receptors, Purinergic P2 - genetics; Receptors, Purinergic P2Y12; Receptors, Thromboxane A2, Prostaglandin H2 - genetics

Platelet number or function disorders cause a range of bleeding symptoms from mild to severe. Patients with platelet dysfunction but normal platelet number are the most prevalent and typically have mild bleeding symptoms. The study of this group of patients is particularly difficult because of the l...