NU Research Week: abstracts
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Browsing NU Research Week: abstracts by Author "Abdrakhmanov, A. C."
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Item Open Access Screening mutation in RYR2 gene in a Kazakhstani idiopathic ventricular tachycardia study cohort: two novel mutations(Nazarbayev University, 2014) Akilzhanova, A.; Guelly, C.; Abilova, Z. M.; Rakhimova, S.; Nuralinov, O. M.; Abdrakhmanov, A. C.; Bekbosynova, M. S.The 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].