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Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

BACKGROUND: Detection of mutations in the mitochondrial DNA (mtDNA) is usually limited to common mutations and the transfer RNA genes. However, mutations in other mtDNA regions can be an important cause of oxidative phosphorylation (OXPHOS) disease as well. OBJECTIVE: To investigate whether regions...

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Detalhes bibliográficos
Main Authors: Blok, M J, Spruijt, L, de Coo, I F M, Schoonderwoerd, K, Hendrickx, A, Smeets, H J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598042/
https://ncbi.nlm.nih.gov/pubmed/17400793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.045716
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