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Combined oxidative phosphorylation deficiency 46
- ... type 1 National Organization for Rare Disorders (NORD) ... in the mitochondrial translation factor EFG1. Hum Mol Genet. 2006 Jun 1;15(11):1835-46. doi: 10.1093/hmg/ddl106. Epub 2006 Apr ...
- ... The molecular basis for tissue specificity of the oxidative phosphorylation ... with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial ...
- ... Mar 27. Citation on PubMed Copeland WC. Inherited mitochondrial diseases of DNA replication. Annu Rev Med. 2008;59:131-46. doi: 10.1146/annurev.med.59.053006.104646. ...
- ... Sci U S A. 2008 Nov 18;105(46):17801-6. doi: 10.1073/pnas.0808198105. Epub ...