Systematic analysis of a mitochondrial disease‐causing ND6 mutation in mitochondrial deficiency

Abstract Background The m.14487T>C mutation is recognized as a diagnostic mutation of mitochondrial disease during the past 16 years, emerging evidence suggests that mutant loads of m.14487T>C and disease phenotype are not closely correlated. Methods Immortalized lymphocytes were generated by cocult...

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主要な著者:	Deyu Chen, Qiongya Zhao, Jingting Xiong, Xiaoting Lou, Qinxia Han, Xiujuan Wei, Jie Xie, Xueyun Li, Huaibin Zhou, Lijun Shen, Yanling Yang, Hezhi Fang, Jianxin Lyu
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2020-05-01
シリーズ:	Molecular Genetics & Genomic Medicine
主題:	cybrids mitochondrial disease mtDNA mutation transcriptome and metabolic analyses
オンライン･アクセス:	https://doi.org/10.1002/mgg3.1199
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