Article
[Mutations of mitochondrial tRNASer(UCN) and their connection with hearing loss].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2017
Fan Wenlu, Tang Xiaowen, Zheng Binjiao, Guan Minxin, Xue Ling
Abstract excerpt
Mitochondrial tRNASer(UCN) gene mutation is closely related to acoustic nerve deafness. Some mutations can affect the structure and transcriptional processing of tRNASer(UCN), for instance m.7444G>A mutation in tRNASer(UCN) precursor 3' side, m.7472 insC as well as m.7511T>C mutations in the stem and ring of tRNASer(UCN), may influence tRNASer(UCN) stability, thus affect the synthesis of mitochondrial peptides,...
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