Article
[Mitochondrial tRNA(Thr)T15943C mutation may be a new position that affects the phenotypic expression of deafness associated 12s rRNA A1555G mutation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2015
Xiao Hongli, He Zheyun, Gao Yinglong, Yang Yaling, Zheng Jing, Cai Zhaoyang, Zheng Binjiao, Tang Xiaowen, Guan Minxin
Abstract excerpt
OBJECTIVE: To identify secondary mutations associated with deafness in a Chinese family affected with deafness. METHODS: The family has been subjected to clinical and molecular analyses, in addition with measurement of reactive oxygen species and doubling time after establishment of immortalized lymphocyte cell lines. RESULTS: The results showed that the hearing loss level and audiometric configuration were...
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