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Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). by Poulton, J, Hirano, M, Spinazzola, A, Arenas Hernandez, M, Jardel, C, Lombès, A, Czermin, B, Horvath, R, Taanman, J, Rotig, A, Zeviani, M, Fratter, C
Published 2009Journal article -
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Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. by Bugiardini, E, Poole, OV, Manole, A, Pittman, AM, Horga, A, Hargreaves, I, Woodward, CE, Sweeney, MG, Holton, JL, Taanman, JW, Plant, GT, Poulton, J, Zeviani, M, Ghezzi, D, Taylor, J, Smith, C, Fratter, C, Kanikannan, MA, Paramasivam, A, Thangaraj, K, Spinazzola, A, Holt, IJ, Houlden, H, Hanna, MG, Pitceathly, RDS
Published 2017Journal article