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Article

Mutations of the Connexin 26 gene in families with non-syndromic hearing loss.

Molecular medicine reports - 1 Jan 2000

Al-Achkar Walid, Moassass Faten, Al-Halabi Bassel, Al-Ablog Ayman

Abstract excerpt

Autosomal recessive non-syndromic hearing impairment (ARNSHI) is caused by mutations in the gap junction gene GJB2 (Connexin 26; Cx26) in numerous human populations. The aim of this study was to determine the frequency of six GJB2 mutations in 50 Syrian families with congenital deafness and in 180 controls. PCR-RFLP was used to detect the 35delG, 167delT, M34T, W24X, W77R and E47X mutations, and direct sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 21468573
DOI: 10.3892/mmr.2011.428

Genes

GJB2

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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