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Article

[Study on nonsyndromic hereditary hearing impairment mutations of GJB2 gene in Uyghur patients in Xinjiang].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jul 2010

Li Yanhua, Guan Hongen, Xu Hongxia, Li Huiwu, Li Hui, Wei Yanhui, Ya Shengjiang, Gong Jianqi

Abstract excerpt

OBJECTIVE: To study mutations in the GJB2 gene in Uyghur patients with nonsyndromic hearing impairment from Xinjiang. METHOD: Forty-three cases with nonsyndromic hearing impairment and 46 adults with normal hearing were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing. RESULT: Six kinds of mutation have been found in the encoding region of hearing impairment group: 380G>A, 109G>A,...

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Source

Identifiers

PMID: 20842950

Genes

GJB2

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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