Del Dotto et al., 2019 - SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. The Journal of Clinical Investigation   130(1):108-125 Full text @ Journal of Clin. Invest.
4 Genes / Markers
Marker Type Symbol Name
Gene cox8a cytochrome c oxidase subunit 8A
Gene mt-co1 cytochrome c oxidase I, mitochondrial
Gene mt-nd1 NADH dehydrogenase 1, mitochondrial
Gene ssbp1 single-stranded DNA binding protein 1
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