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Wittig, I, Augstein, P, Brown, GK, Fujii, T, Rötig, A, Rustin, P, Munnich, A, Seibel, P, Thorburn, D, Wissinger, B, et al.
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain..
J Inherit Metab Dis
24(1)
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15 -27
2001
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Thorburn, DR, Dahl, HH.
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options..
Am J Med Genet
106(1)
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102 -114
2001
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Dahl, HH, Thorburn, DR.
Mitochondrial diseases: beyond the magic circle..
Am J Med Genet
106(1)
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1 -3
2001
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Carpente, KH, Wilcken, B, Christodoulou, J, Thorburn, DR.
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis..
J Inherit Metab Dis
23(8)
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845 -846
2000
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Chinnery, PF, Thorburn, DR, Samuels, DC, White, SL, Dahl, HM, Turnbull, DM, Lightowlers, RN, Howell, N.
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?.
Trends Genet
16(11)
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500 -505
2000
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