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Article

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.

Hearing research - 1 Jun 2008

Matos T D, Caria H, Simões-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell D P, Fialho G

Abstract excerpt

Mutations in GJB2 gene (encoding connexin 26) are the most common cause of hereditary non-syndromic sensorineural hearing loss (NSSHL) in different populations. The majority of GJB2 mutations are recessive, but a few dominant mutations have been associated with hearing loss either isolated or ass...

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Source

Identifiers

PMID: 18472371
DOI: 10.1016/j.heares.2008.03.004

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18472371-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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