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Article

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.

Human mutation - 1 Apr 2002

López-Bigas Núria, Melchionda Salvatore, Gasparini Paolo, Borragán Alfonso, Arbonés Maria Lourdes, Estivill Xavier

Abstract excerpt

Mutations in GJB1, GJB2, GJB3 and GJB6 are involved in hearing impairment. GJB2, GJB3 and GJB6 are also mutated in patients with hyperproliferative skin disorders. The human GJB4 gene has been deduced in silico and a mutation in a family with erythrokeratodermia variabilis has been reported. We describe here the analysis of the GJB4 gene in hearing impairment patients and control subjects. We have identified a...

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Share to Connexin 26
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 11933201
DOI: 10.1002/humu.9023

Genes

GJB4
GJB2
GJB3
GJB6
GJB1

Provenance

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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