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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Detalles Bibliográficos
Autores principales: Martinez Lyons, Anabel, Ardissone, Anna, Reyes, Aurelio, Robinson, Alan J, Moroni, Isabella, Ghezzi, Daniele, Fernandez-Vizarra, Erika, Zeviani, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Mitochondrial Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264227/
https://www.ncbi.nlm.nih.gov/pubmed/27683825
http://dx.doi.org/10.1136/jmedgenet-2016-104194

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264227/
https://www.ncbi.nlm.nih.gov/pubmed/27683825
http://dx.doi.org/10.1136/jmedgenet-2016-104194

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