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Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23723
Abstract: Mitochondrial complex V (CV) generates cellular energy as adenosine triphosphate (ATP). Mitochondrial disease caused by the m.8993T>G pathogenic variant in the CV subunit gene MT‐ATP6 was among the first described human mitochondrial DNA diseases. Due…
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Keywords:
atp6 mitochondrial;
biochemical features;
atp6 variants;
mitochondrial disease ... See more keywords