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Article

Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family.

Scandinavian journal of clinical and laboratory investigation - 1 Jan 2015

Kanters Jørgen K, Skibsbye Lasse, Hedley Paula L, Dembic Maja, Liang Bo, Hagen Christian M, Eschen Ole, Grunnet Morten, Christiansen Michael, Jespersen Thomas

Abstract excerpt

BACKGROUND: Congenital long QT syndrome (LQTS) is a hereditary cardiac channelopathy characterized by delayed ventricular repolarization, syncope, torsades de pointes and sudden cardiac death. Thirty-three members of five apparently 'unrelated' Danish families carry the KCNH2:c.87C> A; p.F29L founder mutation. METHODS AND RESULTS: Linkage disequilibrium mapping with microsatellites around KCNH2 enabled us to...

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Source

Identifiers

PMID: 26403377
DOI: 10.3109/00365513.2015.1091090

Genes

KCNH2

Provenance

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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