Global ETD Search
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Showing 1 to 1 of 1 for “"electron transport chain assembly factors"”.
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The Molecular Anatomy of Mitochondrial Disease: Identification and Characterisation of Novel Nuclear-Encoded Mitochondrial Disease Genes
… putative cytochrome c oxidase (Complex IV, COX) assembly factor, and homozygous recessive sequence variants in TMCO6, which encodes an uncharacterised protein, were identified in patients presenting with classical clinical and biochemical hallmarks of mitochondrial disease. The aim of this work …