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Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome..
Mitochondrion
11(1)
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Calvo, SE, Tucker, EJ, Compton, AG, Kirby, DM, Crawford, G, Burtt, NP, Rivas, M, Guiducci, C, Bruno, DL, Goldberger, OA, et al.
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency..
Nat Genet
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The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families..
Brain
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Riley, LG, Cooper, S, Hickey, P, Rudinger-Thirion, J, McKenzie, M, Compton, A, Lim, SC, Thorburn, D, Ryan, MT, Giegé, R, et al.
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome..
Am J Hum Genet
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2010
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Tucker, EJ, Compton, AG, Thorburn, DR.
Recent advances in the genetics of mitochondrial encephalopathies..
Curr Neurol Neurosci Rep
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2010
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