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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cybrids
mitochondrial disease
mtDNA mutation
transcriptome and metabolic analyses
Online Access:https://doi.org/10.1002/mgg3.1199

Internet

https://doi.org/10.1002/mgg3.1199

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