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Article

A heterozygous missense SCN5A mutation associated with early repolarization syndrome.

International journal of molecular medicine - 1 Sept 2013

Li Ning, Wang Rongrong, Hou Cuihong, Zhang Yinhui, Teng Siyong, Pu Jielin

Abstract excerpt

The genetic background of early repolarization syndrome (ERS) has not been fully understood. In this study, we identified a missense SCN5A mutation and a polymorphism in a patient with ERS and characterized the functional consequences of the two variants. The functional consequences of mutant cha...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23799537
DOI: 10.3892/ijmm.2013.1422

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23799537-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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