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Article

[GJB2 235delC single allelic mutation modulates the phenotype associated with the mitochondrial A1555G mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2010

Li Qi, Fang Ru-ping, Zhou Hong-gen, Dai Pu, Tian Li, Lin Di, Huang Qun, Song Jian-min

Abstract excerpt

OBJECTIVE: To investigate a non-syndromic deafness family in which potential interaction between the GJB2 gene and a mitochondrial gene appeared to be the cause of hearing impairment. METHODS: Audiological examination was performed by pure-tone audiometry (PTA). Blood samples from 8 members of the pedigree were obtained. DNA was extracted from the leukocytes. The coding region of the GJB2 gene and mitochondrial...

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Identifiers

PMID: 20376804
DOI: 10.3760/cma.j.issn.1003-9406.2010.02.017

Genes

GJB2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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