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1 records found for search term Ndufs8
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RGD IDTitleCitationAbstractPubMedPub Date
598115110Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.Procaccio V and Wallace DC, Neurology. 2004 May 25;62(10):1899-901. doi: 10.1212/01.wnl.0000125251.56131.65.Analysis of the complex I NDUFS8 gene from Leigh syndrome patients with isolated complex I deficiency revealed that one patient with late-onset disease and partial complex I defect was a compound heterozygote for two novel mutations in NDUFS8151595082004-05-25