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Article

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

Journal of cellular and molecular medicine - 1 Feb 2018

Huang Hao, Chen Ya-Qin, Fan Liang-Liang, Guo Shuai, Li Jing-Jing, Jin Jie-Yuan, Xiang Rong

Abstract excerpt

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 study has demonstrated that mutations in genes encoding voltage-gated channel and related proteins were the crucial genetic lesion of CCD. In this study, we employed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29077258
DOI: 10.1111/jcmm.13409
PMCID: PMC5783853

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