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Results 1 - 4 of 4 for Combined oxidative phosphorylation deficiency 46
  1. Combined oxidative phosphorylation deficiency 1 
    ... 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 ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  2. GFM1 gene 
    ... The molecular basis for tissue specificity of the oxidative phosphorylation ... with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial ...
    https://medlineplus.gov/genetics/gene/gfm1 - Genetics
  3. Deoxyguanosine kinase deficiency 
    ... 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. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  4. RRM2B gene 
    ... Sci U S A. 2008 Nov 18;105(46):17801-6. doi: 10.1073/pnas.0808198105. Epub ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics