CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca(2+) release termination and diminishes protein expression

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most lethal inherited cardiac arrhythmias mostly linked to cardiac ryanodine receptor (RyR2) mutations with high disease penetrance. Interestingly, a novel RyR2 mutation G357S discovered in a large family of more than 1400 in...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Liu, Yingjie, Wei, Jinhong, Wong King Yuen, Siobhan M., Sun, Bo, Tang, Yijun, Wang, Ruiwu, Van Petegem, Filip, Chen, S. R. Wayne
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5621672/
https://ncbi.nlm.nih.gov/pubmed/28961276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0184177
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados