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Article

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.

Journal of molecular and cellular cardiology - 1 Mar 2007

Tsuji Keiko, Akao Masaharu, Ishii Takahiro M, Ohno Seiko, Makiyama Takeru, Takenaka Kotoe, Doi Takahiro, Haruna Yoshisumi, Yoshida Hidetada, Nakashima Toshihiro, Kita Toru, Horie Minoru

Abstract excerpt

Mutations in KCNQ1, the gene encoding the delayed rectifier K(+) channel in cardiac muscle, cause long QT syndrome (LQTS). We studied 3 families with LQTS, in whom a guanine to adenine change in the last base of exon 7 (c.1032G>A), previously reported as a common splice-site mutation, was identified. We performed quantitative measurements of exon-skipping KCNQ1 mRNAs caused by this mutation using real-time...

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Source

Identifiers

PMID: 17292394
DOI: 10.1016/j.yjmcc.2006.12.015

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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