Article
Receptor homodimerization plays a critical role in a novel dominant negative P2RY12 variant identified in a family with severe bleeding.
Journal of thrombosis and haemostasis : JTH - 1 Jan 2018
Mundell S J, Rabbolini D, Gabrielli S, Chen Q, Aungraheeta R, Hutchinson J L, Kilo T, Mackay J, Ward C M, Stevenson W, Morel-Kopp M-C
Abstract excerpt
Essentials Three dominant variants for the autosomal recessive bleeding disorder type-8 have been described. To date, there has been no phenotype/genotype correlation explaining their dominant transmission. Proline plays an important role in P2Y12R ligand binding and signaling defects. P2Y12R homodimer formation is critical for the receptor function and signaling. SUMMARY: Background Although inherited platelet...
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