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Article

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.

Journal of medical genetics - 1 Oct 2006

Niu Dau-Ming, Hwang Betau, Hwang Han-Wei, Wang Nana H, Wu Jer-Yuarn, Lee Pi-Chang, Chien Jen-Chung, Shieh Ru-Chi, Chen Yuan-Tsong

Abstract excerpt

The SCN5A mutations have been associated with a variety of arrhythmic disorders, including type 3 long QT syndrome (LQT3), Brugada syndrome and inherited cardiac conduction defects. The relationship between genotype and phenotype in SCN5A mutations is complex. Some SCN5A mutations may cause death or severe manifestations in some people and may not cause any symptoms or arrhythmias in others. The causes of these...

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Identifiers

PMID: 16707561
DOI: 10.1136/jmg.2006.042192
PMCID: PMC2563172

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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