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COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

BACKGROUND: Assembly of cytochrome c oxidase (COX, complex IV, cIV), the terminal component of the mitochondrial respiratory chain, is assisted by several factors, most of which are conserved from yeast to humans. However, some of them, including COA7, are found in humans but not in yeast. COA7 is a...

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Bibliografiset tiedot
Julkaisussa:J Med Genet
Päätekijät: Martinez Lyons, Anabel, Ardissone, Anna, Reyes, Aurelio, Robinson, Alan J, Moroni, Isabella, Ghezzi, Daniele, Fernandez-Vizarra, Erika, Zeviani, Massimo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 2016
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5264227/
https://ncbi.nlm.nih.gov/pubmed/27683825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104194
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