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Article

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

Molecular genetics and metabolism - 1 Apr 2002

Wang Zhiqing, Li Hua, Moss Arthur J, Robinson Jennifer, Zareba Wojciech, Knilans Timothy, Bowles Neil E, Towbin Jeffrey A

Abstract excerpt

Jervell and Lange-Nielsen syndrome (JLNS) is characterized by sensorineural deafness, QT prolongation, abnormal T waves, ventricular tachyarrhythmias, and autosomal recessive inheritance. Previously homozygous mutations in the potassium channel-encoding genes, KvLQT1 (alpha-subunit) and KCNE1 (beta-subunit), have been described in consanguineous families with JLNS. We screened two nonconsanguineous families with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Identifiers

PMID: 12051962
DOI: 10.1016/S1096-7192(02)00007-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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