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Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high..
Am J Hum Genet
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1992
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Christodoulou, J, Mclnnes, RR.
Hereditary metabolic disease in infancy.
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1992
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Chow, CW, Poulos, A, Fellenberg, AJ, Christodoulou, J, Danks, DM.
Autopsy findings in two siblings with infantile Refsum disease..
Acta Neuropathol
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1992
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Jay, V, Christodoulou, J, Mercer-Connolly, A, McInnes, RR.
"Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency..
Acta Neuropathol
85(1)
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1992
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Christodoulou, J, Bankier, A, Loughnan, P.
Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome..
Am J Med Genet
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1990
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