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Article

Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong.

Molecular genetics & genomic medicine - 1 Aug 2023

Liang Shaoming, Li Weihong, Chen Zhichao, Yuan Shimin, Wang Zhao

Abstract excerpt

BACKGROUND: GJB2 mutations are among the most important causes of deafness, and their prevalence varies greatly among different countries and ethnic groups. This study aimed to determine the pathogenic mutation spectrum of GJB2 in patients with nonsyndromic hearing loss (NSHL) in Western Guangdong and to explore the pathogenic characteristics of the c.109G>A locus. METHODS: In total, 97 NSHL patients and 212...

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Identifiers

PMID: 37070846
DOI: 10.1002/mgg3.2185
PMCID: PMC10422065

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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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