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Rahman, S, Blok, RB, Dahl, HH, Danks, DM, Kirby, DM, Chow, CW, Christodoulou, J, Thorburn, DR.
Leigh syndrome: clinical features and biochemical and DNA abnormalities..
Ann Neurol
39(3)
:
343 -351
1996
view publication
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Takakubo, F, Cartwright, P, Hoogenraad, N, Thorburn, DR, Collins, F, Lithgow, T, Dahl, HH.
An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein..
Am J Hum Genet
57(4)
:
772 -780
1995
view publication
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Blok, RB, Thorburn, DR, Danks, DM, Dahl, HH.
mtDNA deletion in a patient with symptoms of mitochondrial cytopathy but without ragged red fibers..
Biochem Mol Med
56(1)
:
26 -30
1995
view publication
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Blok, RB, Thorburn, DR, Thompson, GN, Dahl, HH.
A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion..
Hum Genet
95(1)
:
75 -81
1995
view publication
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Takakubo, F, Thorburn, DR, Brown, RM, Brown, GK, Dahl, HH.
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency..
Hum Mutat
6(3)
:
274 -275
1995
view publication