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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...

詳細記述

保存先:
書誌詳細
出版年:J Med Genet
主要な著者: Martinez Lyons, Anabel, Ardissone, Anna, Reyes, Aurelio, Robinson, Alan J, Moroni, Isabella, Ghezzi, Daniele, Fernandez-Vizarra, Erika, Zeviani, Massimo
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2016
主題:
オンライン・アクセス: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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