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Article

Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.

Neurobiology of disease - 1 Apr 2006

Palmada M, Schmalisch K, Böhmer C, Schug N, Pfister M, Lang F, Blin N

Abstract excerpt

Mutations in GJB2, which encodes the gap junction protein connexin 26 (Cx26), are one of the major causes for inherited and sporadic nonsyndromic hearing impairment. This study aimed to functionally characterize more frequent GJB2 mutations identified in patients showing nonsyndromic hearing impairment. Following injection of wild type and mutated cRNA in Xenopus oocytes, Cx26 hemichannel activity was measured by...

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Source

Identifiers

PMID: 16300957
DOI: 10.1016/j.nbd.2005.10.005

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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