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Article

Determination of the carrier frequencies of selected GJB2 mutations in the Korean population.

International journal of audiology - 1 Oct 2011

Kim Shin Young, Lee Bom Yi, Lim Ji Hyae, Ryu Hyun Mee, Yang Jae Hyug, Chung Jin Hoon, Han Ho Won, Park So Yeon

Abstract excerpt

OBJECTIVE: Mutations in the GJB2 gene are a major cause of hereditary hearing loss. However, only a few studies have investigated carrier frequencies of GJB2 mutations in the general population. The aim of this study was to estimate the carrier frequencies of three GJB2 mutations, including 235delC, V37I, and G45E, in the general Korean population. DESIGN: A standard questionnaire of self-reported hearing loss...

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Source

Identifiers

PMID: 21815880
DOI: 10.3109/14992027.2011.563247

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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