Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits...

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Detalhes bibliográficos
Main Authors: Massa, Valeria, Fernandez-Vizarra, Erika, Alshahwan, Saad, Bakhsh, Eman, Goffrini, Paola, Ferrero, Ileana, Mereghetti, Paolo, D'Adamo, Pio, Gasparini, Paolo, Zeviani, Massimo
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427282/
https://ncbi.nlm.nih.gov/pubmed/18499082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.05.002
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