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RYR2 Sequencing Reveals Novel Missense Mutations in a Kazakh Idiopathic Ventricular Tachycardia Study Cohort

Channelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the...

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Detalles Bibliográficos
Autores principales: Akilzhanova, Ainur, Guelly, Christian, Nuralinov, Omirbek, Nurkina, Zhannur, Nazhat, Dinara, Smagulov, Shalkhar, Tursunbekov, Azat, Alzhanova, Anar, Rashbayeva, Gulzhaina, Abdrakhmanov, Ayan, Dosmagambet, Sholpan, Trajanoski, Slave, Zhumadilov, Zhaxybay, Sharman, Almaz, Bekbosynova, Mahabbat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076244/
https://www.ncbi.nlm.nih.gov/pubmed/24978818
http://dx.doi.org/10.1371/journal.pone.0101059