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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
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Kapsa, R, Thompson, GN, Thorburn, DR, Dahl, HH, Marzuki, S, Byrne, E, Blok, RB.
A novel mtDNA deletion in an infant with Pearson syndrome..
J Inherit Metab Dis
17(5)
:
521 -526
1994
view publication