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