Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death

Mutations in cardiac ryanodine receptor (RyR2) are linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most CPVT RyR2 mutations characterized are gain-of-function (GOF), indicating enhanced RyR2 function as a major cause of CPVT. Loss-of-function (LOF) RyR2 mutations have also be...

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Detalles Bibliográficos
Autores principales: Zhong, Xiaowei, Guo, Wenting, Wei, Jinhong, Tang, Yijun, Liu, Yingjie, Zhang, Joe Z., Tan, Vern Hsen, Zhang, Lin, Wang, Ruiwu, Jones, Peter P., Napolitano, Carlo, Priori, Silvia G., Chen, S.R. Wayne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2021
Materias:
Cardiovascular System & Vascular Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8062958/
https://www.ncbi.nlm.nih.gov/pubmed/33825858
http://dx.doi.org/10.1042/BSR20210209

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8062958/
https://www.ncbi.nlm.nih.gov/pubmed/33825858
http://dx.doi.org/10.1042/BSR20210209

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