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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: Liu, Yingjie, Wei, Jinhong, Wong King Yuen, Siobhan M., Sun, Bo, Tang, Yijun, Wang, Ruiwu, Van Petegem, Filip, Chen, S. R. Wayne
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2017
Pynciau:
Research Article
Mynediad Ar-lein: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
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