Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation

The aim of this study was to evaluate the contribution of mitochondrial DNA (mtDNA) mutations in oxidative phosphorylation (OXPHOS) deficiency. The complete mitochondrial genomes of 41 families with OXPHOS deficiency were screened for mutations. Mitochondrial functional analysis was then performed i...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Fang, Hezhi, Shi, Hao, Li, Xiyuan, Sun, Dayan, Li, Fengjie, Li, Bin, Ding, Yuan, Ma, Yanyan, Liu, Yupeng, Zhang, Yao, Shen, Lijun, Bai, Yidong, Yang, Yanling, Lu, Jianxin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4444849/
https://ncbi.nlm.nih.gov/pubmed/26014388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep10480
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