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Article

The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases.

Genetic testing and molecular biomarkers - 1 Feb 2010

Matos Tiago D, Simões-Teixeira Helena, Caria Helena, Rosa Helena, O'Neill Assunção, Fialho Graça

Abstract excerpt

Mutations in the GJB2 gene account for up to 50% of hereditary nonsyndromic hearing loss in several populations. Over 200 mutations are already described in this gene, and three of them, c.35delG, c.167delT, and c.235delC, are the most frequent in Caucasians, Ashkenazi Jews, and Asians, respectiv...

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Source

Identifiers

PMID: 19929408
DOI: 10.1089/gtmb.2009.0103

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19929408-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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