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Article

Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

Pharmacogenetics and genomics - 1 Dec 2008

Wang Xinjian, Lu Jianxin, Zhu Yi, Yang Aifen, Yang Li, Li Ronghua, Chen Bobei, Qian Yaping, Tang Xiaowen, Wang Jindan, Zhang Xue, Guan Min-Xin

Abstract excerpt

OBJECTIVE: To investigate the role of mitochondrial modifiers in the development of deafness associated with 12S rRNA A1555G mutation. METHODS: Four Chinese families with nonsyndromic and aminoglycoside-induced deafness were studied by clinical and genetic evaluation, molecular and biochemical analyses of mitochondrial DNA (mtDNA). RESULTS: These families exhibited high penetrance and expressivity of hearing...

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Identifiers

PMID: 18820594
DOI: 10.1097/FPC.0b013e3283131661
PMCID: PMC2905378

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

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