Browsing 13.Materials of Forums, Conferences and Projects by Author "Guelly, C."

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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. (Nazarbayev University, 2014)

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 ...