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Article

Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process.

Biochimica et biophysica acta - 1 Nov 2011

Tsuji-Wakisaka Keiko, Akao Masaharu, Ishii Takahiro M, Ashihara Takashi, Makiyama Takeru, Ohno Seiko, Toyoda Futoshi, Dochi Kenichi, Matsuura Hiroshi, Horie Minoru

Abstract excerpt

BACKGROUND: KCNQ1 gene encodes the delayed rectifier K(+) channel in cardiac muscle, and its mutations cause long QT syndrome type 1 (LQT1). Especially exercise-related cardiac events predominate in LQT1. We previously reported that a KCNQ1 splicing mutation displays LQT1 phenotypes. METHODS AND RESULTS: We identified novel mutation at the third base of intron 7 (IVS7 +3A>G) in exercise-induced LQT1 patients....

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Source

Identifiers

PMID: 21810471
DOI: 10.1016/j.bbadis.2011.07.011

Genes

KCNQ1

Variants

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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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