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Article

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Human mutation - 1 Jan 1998

Scott D A, Kraft M L, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy C R, Rosengren S S, Markham A F, Mueller R F, Lench N J, Van Camp G, Smith R J, Sheffield V C

Abstract excerpt

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1...

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Source

Identifiers

PMID: 9600457
DOI: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9600457-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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