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Article

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.

PloS one - 1 Jan 2015

Zheng Jing, Ying Zhengbiao, Cai Zhaoyang, Sun Dongmei, He Zheyun, Gao Yinglong, Zhang Ting, Zhu Yi, Chen Ye, Guan Min-Xin

Abstract excerpt

Mutations in Gap Junction Beta 2 (GJB2) have been reported to be a major cause of non-syndromic hearing loss in many populations worldwide. The spectrums and frequencies of GJB2 variants vary substantially among different ethnic groups, and the genotypes among these populations remain poorly understood. In the present study, we carried out a systematic and extended mutational screening of GJB2 gene in 1067 Han...

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Identifiers

PMID: 26043044
DOI: 10.1371/journal.pone.0128691
PMCID: PMC4456361

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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