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Article

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Human mutation - 1 Oct 2004

Azaiez Hela, Chamberlin G Parker, Fischer Stephanie M, Welp Chelsea L, Prasad Sai D, Taggart R Thomas, del Castillo Ignacio, Van Camp Guy, Smith Richard J H

Abstract excerpt

Genetic testing was completed on 1,294 persons with deafness referred to the Molecular Otolaryngology Research Laboratories to establish a diagnosis of DFNB1. Exon 2 of GJB2 was screened for coding sequence allele variants by denaturing high-performance liquid chromatography (DHPLC) complemented by bidirectional sequencing. If two deafness-causing mutations of GJB2 (encoding Connexin 26) were identified, further...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 15365987
DOI: 10.1002/humu.20084
PMCID: PMC10519371

Genes

GJB2
GJB6

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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