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Article

[Functional analysis of a novel SCN5A mutation G1712C identified in Brugada syndrome].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University - 20 Feb 2016

Chen Yan-Yu, Liu Shen-Rong, Xie Liang-Zhen, Zhu Ting-Yan, Chen Yi-Zhen, Deng Xiao-Jiang, Meng Su-Rong, Peng Jian

Abstract excerpt

OBJECTIVE: To elucidate the molecular and electrophysiological mechanisms of Brugada syndrome through functional analysis of a novel SCN5A gene mutation G1712C. METHODS: A recombinant plasmid pRc<CMV-hH1 containing the mutant human cardiac sodium channel α subunit (hH1) cDNA was constructed using in vitro PCR-based site-directed mutagenesis technique. LipofectamineTM 3000 was used to transfect the plasmid DNA...

Topics

Brugada Syndrome
Genotype
HEK293 Cells
Humans
Mutagenesis, Site-Directed
Mutation
NAV1.5 Voltage-Gated Sodium Channel
Patch-Clamp Techniques
Polymerase Chain Reaction
Transfection

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Identifiers

PMID: 28219873
PMCID: PMC6779663

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-28219873-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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