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C6ORF66 Is an Assembly Factor of Mitochondrial Complex I
Homozygosity mapping was performed in five patients from a consanguineous family who presented with infantile mitochondrial encephalomyopathy attributed to isolated NADH:ubiquinone oxidoreductase (complex I) deficiency. This resulted in the identification of a missense mutation in a conserved residu...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Human Genetics
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2253982/ https://ncbi.nlm.nih.gov/pubmed/18179882 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.08.003 |
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