Article
Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.
Human mutation - 1 Jun 2017
Sadovnick A Dessa, Gu Ben J, Traboulsee Anthony L, Bernales Cecily Q, Encarnacion Mary, Yee Irene M, Criscuoli Maria G, Huang Xin, Ou Amber, Milligan Carol J, Petrou Steven, Wiley James S, Vilariño-Güell Carles
Abstract excerpt
Genetic variants in the purinergic receptors P2RX4 and P2RX7 have been shown to affect susceptibility to multiple sclerosis (MS). In this study, we set out to evaluate whether rare coding variants of major effect could also be identified in these purinergic receptors. Sequencing analysis of P2RX4 and P2RX7 in 193 MS patients and 100 controls led to the identification of a rare three variant haplotype (P2RX7...
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