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Article

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 May 2004

Skerrett I M, Di W-L, Kasperek E M, Kelsell D P, Nicholson B J

Abstract excerpt

Mutations in the gene GJB2, encoding the gap junction protein Connexin26 (Cx26), are the most prevalent cause of inherited hearing loss, and Cx26M34T was one of the first mutations linked to deafness (Kelsell et al., 1997; Nature 387, 80-83). We report the first characterization of the gating pro...

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Source

Identifiers

PMID: 15033936
DOI: 10.1096/fj.03-0763fje

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15033936-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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