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Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation..
J Inherit Metab Dis
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Dahl, HH, Osborn, AH, Hutchison, WM, Thorburn, DR, Sheffield, LJ.
Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata..
Mol Genet Metab
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1999
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FitzPatrick, DR, Hill, A, Tolmie, JL, Thorburn, DR, Christodoulou, J.
The molecular basis of malonyl-CoA decarboxylase deficiency..
Am J Hum Genet
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1999
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White, SL, Collins, VR, Wolfe, R, Cleary, MA, Shanske, S, DiMauro, S, Dahl, HH, Thorburn, DR.
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993..
Am J Hum Genet
65(2)
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1999
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Bruno, C, Kirby, DM, Koga, Y, Garavaglia, B, Duran, G, Santorelli, FM, Shield, LK, Xia, W, Shanske, S, Goldstein, JD, et al.
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy..
J Pediatr
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