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Article

Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary.

International journal of molecular medicine - 1 Dec 2004

Bors András, Andrikovics Hajnalka, Kalmár Lajos, Erdei Noémi, Galambos Sándor, Losonczi András, Füredi Sándor, Balogh István, Szalai Csaba, Tordai Attila

Abstract excerpt

The most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the gene GJB2, encoding the protein connexin 26 (Cx26). The mutation c.35delG is found in 30-70% of Caucasian NSRD cases, and is abundant (allele frequency of 0.5-2%) in several European population...

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Identifiers

PMID: 15547683

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15547683-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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