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Article

Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype.

Pacing and clinical electrophysiology : PACE - 1 Jan 2012

Krishnan Yamini, Zheng Renjian, Walsh Christine, Tang Yingying, McDonald Thomas V

Abstract excerpt

BACKGROUND: The hereditary Long QT Syndrome is a common cardiac disorder where ventricular repolarization is delayed, abnormally prolonging the QTc interval on electrocardiograms. LQTS is linked to various genetic loci, including the KCNH2 (HERG) gene that encodes the α-subunit of the cardiac potassium channel that carries I(Kr). Here, we report and characterize a novel pathologic missense mutation, G816V HERG,...

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Source

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Identifiers

PMID: 21951015
DOI: 10.1111/j.1540-8159.2011.03222.x
PMCID: PMC3248989

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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