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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

NADH:ubiquinone oxidoreductase (complex I) deficiency is a common cause of mitochondrial oxidative phosphorylation disease. It is associated with a wide range of clinical phenotypes in infants, including Leigh syndrome, cardiomyopathy, and encephalomyopathy. In at least half of patients, enzyme defi...

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Detalhes bibliográficos
Main Authors: Ogilvie, Isla, Kennaway, Nancy G., Shoubridge, Eric A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2005
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1236688/
https://ncbi.nlm.nih.gov/pubmed/16200211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI26020
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