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

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 cocultu...

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Detalles Bibliográficos
Autores principales: Chen, Deyu, Zhao, Qiongya, Xiong, Jingting, Lou, Xiaoting, Han, Qinxia, Wei, Xiujuan, Xie, Jie, Li, Xueyun, Zhou, Huaibin, Shen, Lijun, Yang, Yanling, Fang, Hezhi, Lyu, Jianxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216815/
https://www.ncbi.nlm.nih.gov/pubmed/32162843
http://dx.doi.org/10.1002/mgg3.1199