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Blok, RB, Thorburn, DR, Thompson, GN, Dahl, H-HM. A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion.
Human Genetics
95(1)
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1995
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van Werkhoven, MA, Thorburn, DR, Gedeon, AK, Pitt, JJ. Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.
Journal of Lipid Research
47(10)
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2346 -2351
2006
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Frazier, AE, Thorburn, DR. Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry.
837:
49 -62
2011
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Thorburn, DR, Sugiana, C, Salemi, R, Kirby, DM, Worgan, L, Ohtake, A, Ryan, MT. Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.
Biochimica et Biophysica Acta
1659(2-3)
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121 -128
2004
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Desai, R, Frazier, AE, Durigon, R, Patel, H, Jones, AW, Rosa, ID, Lake, NJ, Compton, AG, Mountford, HS, Tucker, EJ, et al. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
140(6)
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1595 -1610
2017
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