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Results 1 - 2 of 2 for Combined oxidative phosphorylation deficiency 39
  1. SLC25A1 gene 
    ... protein. DNA Seq. 1997;7(3-4):127-39. doi: 10.3109/10425179709034029. Citation on PubMed Nota ... in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am ...
    https://medlineplus.gov/genetics/gene/slc25a1 - Genetics
  2. RRM2B gene 
    ... severe mitochondrial DNA depletion. Nat Genet. 2007 Jun;39(6):776-80. doi: 10.1038/ng2040. Epub ... Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics