Articles with "r189x" as a keyword



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Whole‐exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death

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Published in 2018 at "Journal of Cellular and Molecular Medicine"

DOI: 10.1111/jcmm.13409

Abstract: Cardiac conduction disease (CCD) is a serious disorder and the leading cause of mortality worldwide. It is characterized by arrhythmia, syncope or even sudden cardiac death caused by the dysfunction of cardiac voltage‐gated channel. Previous… read more here.

Keywords: exome sequencing; conduction disease; gpd1l; r189x ... See more keywords