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Kirby, DM, Milovac, T, Thorburn, DR. A false-positive diagnosis for the common MELAS (A3243G) mutation caused by a novel variant (A3426G) in the ND1 gene of mitochondria DNA.
Molecular Diagnosis
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White, SL, Shanske, S, McGill, JJ, Mountain, H, Geraghty, MT, DiMauro, S, Dahl, HM, Thorburn, DR. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation.
Journal of Inherited Metabolic Disease
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1999
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Duff, RM, Shearwood, A-MJ, Ermer, J, Rossetti, G, Gooding, R, Richman, TR, Balasubramaniam, S, Thorburn, DR, Rackham, O, Lamont, PJ, et al. A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.
Mitochondrion
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Rosa, ID, Cámara, Y, Durigon, R, Moss, CF, Vidoni, S, Akman, G, Hunt, L, Johnson, MA, Grocott, S, Wang, L, et al. MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.
PLOS Genetics
12(1)
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