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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease mitochondrial complex iv deficiency
Comorbidity C0751651|mitochondrial disease
Sentences 2
PubMedID- 24812436 In previous work, we have described the partial alleviation of the phenotypes of drosophila mutants that represented mitochondrial disease models associated with cytochrome oxidase deficiency (fernández-ayala et al., 2009; kemppainen et al., 2014), complex i deficiency (sanz et al., 2010a), dna polymerase γ disease (humphrey et al., 2012) and disorders of mitochondrial protein synthesis (kemppainen et al., 2009; chen et al., 2012).
PubMedID- 23362268 Finally, our results identify hcoa3 as a new candidate when screening for genes responsible for mitochondrial diseases associated with cox deficiency.

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