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Article

[Modifier factors influencing the phenotypic manifestation of the deafness associated mitochondrial DNA mutations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2011

YANG Ai-fen, ZHENG Jing, LV Jian-xin, GUAN Min-xin

Abstract excerpt

Mutations in the mitochondrial DNA have been found to be one of the most important causes of sensorineural hearing loss. In particular, these mutations often occur in the mitochondrial 12S rRNA and tRNA genes. Of these, the homoplasmic A1555G and C1494T mutations in the 12S rRNA have been associated with both aminoglycoside induced and nonsyndromic hearing impairment in many families worldwide. Children carrying...

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Identifiers

PMID: 21462128
DOI: 10.3760/cma.j.issn.1003-9406.2011.02.010

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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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