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Mitochondrial tRNAThr 15909A>G mutation associated with hypertension in a Chinese Han pedigree.

Biochemical and biophysical research communications - 1 Jan 2018

Li Haiying, Geng Junwei, Yu Han, Tang Xiaowen, Yang Xiangjun, Xue Ling

Abstract excerpt

Mitochondrial DNA mutations are one of the molecular genetic bases of hypertension. Here, we performed clinical, genetic and mutational evaluation, molecular characterization as well as biochemical analysis of a Chinese Han family with maternally inherited hypertension. The m.15909A > G variant in tRNAThr was identified. This mutation abolished a highly conserved base pairing (11U-24A) in the D-stem of tRNAThr...

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Identifiers

PMID: 29129694
DOI: 10.1016/j.bbrc.2017.11.061

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