Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

Hana Antonicka, Scot C. Leary, Guy Hellen Guercin, Jeffrey N. Agar, Rita Horvath, Nancy G. Kennaway, Cary O. Harding, Michaela Jaksch, Eric A. Shoubridge

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