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Article

Connexin-30 deletion analysis in connexin-26 heterozygotes.

Genetic testing - 1 Jan 2003

Stevenson Victoria A, Ito Masamichi, Milunsky Jeff M

Abstract excerpt

Mutations in the Connexin-26 gene (Cx 26, GJB2) are the most common cause of hereditary nonsyndromic sensorineural hearing loss (SNHL). DNA analysis of the Cx 26 gene in deaf or hard-of-hearing individuals frequently demonstrates heterozygosity despite the fact that most mutations are known to be recessive. A 342-kb deletion in a gene adjacent to Cx 26, the Connexin-30 gene (Cx 30, GJB6), has been reported to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12885339
DOI: 10.1089/109065703322146867

Genes

GJB2
GJB6

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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Connexin-30 deletion analysis in connexin-26 heterozygotes.PMID 12885339Read ↗

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