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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease
Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system. We report a patient with Leigh syndrome who showed a complex I deficiency expressed in cultured fibroblasts and muscle tissue. To find the genetic cause of the complex I deficiency, we screened the...
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Main Authors: | , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Nature Publishing Group
2011
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3061993/ https://ncbi.nlm.nih.gov/pubmed/21150889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.204 |
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