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Article

Novel mutations of KCNQ1 in Long QT syndrome.

Indian heart journal - 1 Jan 2000

Qureshi Sameera F, Ali Altaf, Ananthapur Venkateshwari, Jayakrishnan M P, Calambur Narasimhan, Thangaraj Kumarasamy, Nallari Pratibha

Abstract excerpt

BACKGROUND: Autosomal recessive Long QT syndrome is characterized by prolonged QTc along with congenital bilateral deafness depends on mutations in K(+) channel genes. A family of a Long QT syndrome proband from India has been identified with novel indel variations. METHODS: The molecular study of the proband revealed 4 novel indel variations in KCNQ1. In-silico analysis revealed the intronic variations has led...

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Identifiers

PMID: 24206879
DOI: 10.1016/j.ihj.2013.08.025
PMCID: PMC3861163

Genes

KCNQ1

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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