Screening mutation in RYR2 gene in a Kazakhstani idiopathic ventricular tachycardia study cohort: two novel mutations

Akilzhanova, A.Guelly, C.Abilova, Z. M.Rakhimova, S.Nuralinov, O. M.Abdrakhmanov, A. C.Bekbosynova, M. S.2015-10-222015-10-222014http://nur.nu.edu.kz/handle/123456789/420The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (<60%) in context of catecholaminergic polymorphic ventricular tachycardia (CPVT1) [1].enventricular tachycardiaventricular arrhythmiaRYR2 geneScreening mutation in RYR2 gene in a Kazakhstani idiopathic ventricular tachycardia study cohort: two novel mutationsAbstract