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Article

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Orphanet journal of rare diseases - 28 Jan 2020

Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu Hao

Abstract excerpt

BACKGROUND: Recessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to investigate the underlying causative genes in patients with mono-allelic GJB2 mutations. METHODS: We analyzed the mutation screening results of GJB2 in 1852 Chinese Han probands with apparently...

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Identifiers

PMID: 31992338
DOI: 10.1186/s13023-020-1311-2
PMCID: PMC6986010

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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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