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Article

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.

Journal of human genetics - 1 Jan 2008

Han Sung-Hee, Park Hong-Joon, Kang Eun-Joo, Ryu Jae-Song, Lee Anna, Yang Young-Ho, Lee Kyoung-Ryul

Abstract excerpt

Mutations in the GJB2 gene are associated with hereditary hearing loss. Although most studies of GJB2 mutations have dealt with hearing-impaired patients, there are few reports of the frequency of these mutations in the general population. The purpose of this study is to evaluate the prevalence of GJB2 mutations causing inherited deafness in the general Korean population. Blood samples were obtained from 2,072...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19043807
DOI: 10.1007/s10038-008-0342-7

Genes

GJB2

Variants

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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