Articles with "mutation 9032t" as a keyword



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Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C

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Published in 2022 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddac292

Abstract: Abstract The mitochondrial DNA mutation m.9032T>C was previously identified in patients presenting with NARP (Neuropathy Ataxia Retinitis Pigmentosa). Their clinical features had a maternal transmission and patient’s cells showed a reduced oxidative phosphorylation capacity, elevated… read more here.

Keywords: dna mutation; mutation 9032t; mitochondrial dna; atp synthase ... See more keywords