Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

BACKGROUND: The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood. METHODS: To determine the frequency of TMEM43 mutations as a ca...

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Hlavní autoři: Rajkumar, Revathi, Sembrat, John C, McDonough, Barbara, Seidman, Christine E, Ahmad, Ferhaan
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3352248/
https://ncbi.nlm.nih.gov/pubmed/22458570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-21
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