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Article

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

Circulation - 7 Sept 1999

Murray A, Donger C, Fenske C, Spillman I, Richard P, Dong Y B, Neyroud N, Chevalier P, Denjoy I, Carter N, Syrris P, Afzal A R, Patton M A, Guicheney P, Jeffery S

Abstract excerpt

BACKGROUND: Long-QT syndrome is a monogenic disorder that produces cardiac arrhythmias and can lead to sudden death. At least 5 loci and 4 known genes exist in which mutations have been shown to be responsible for the disease. The potassium channel gene KCNQ1, previously named KVLQT1, on chromosome 11p15.5 is one of these. METHODS AND RESULTS: We initially analyzed one family using microsatellite markers and...

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Source

Identifiers

PMID: 10477533
DOI: 10.1161/01.cir.100.10.1077

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.PMID 10477533Read ↗

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