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...

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Gepubliceerd in:PLoS One
Hoofdauteurs: Liu, Yingjie, Wei, Jinhong, Wong King Yuen, Siobhan M., Sun, Bo, Tang, Yijun, Wang, Ruiwu, Van Petegem, Filip, Chen, S. R. Wayne
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2017
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Research Article
Online toegang: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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