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An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect
Mutations in the genes composing the mitochondrial translation apparatus are an important cause of a heterogeneous group of oxidative phosphorylation (OXPHOS) disorders. We studied the index case in a consanguineous family in which two children presented with severe encephalopathy, lactic acidosis,...
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| Glavni autori: | , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2012
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3484649/ https://ncbi.nlm.nih.gov/pubmed/23022098 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.020 |
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