Global ETD Search
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Showing 1 to 1 of 1 for “"TMCO6"”.
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The Molecular Anatomy of Mitochondrial Disease: Identification and Characterisation of Novel Nuclear-Encoded Mitochondrial Disease Genes
… 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 was to 1) assess the pathogenicity of the COA7 and TMCO6 mutant …