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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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出版年: | J Med Genet |
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主要な著者: | , , , , , , , |
フォーマット: | Artigo |
言語: | Inglês |
出版事項: |
BMJ Publishing Group
2016
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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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