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Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.
Müller-Höcker J, Horvath R, Schäfer S, Hessel H, Müller-Felber W, Kühr J, Copeland WC, Seibel P. Müller-Höcker J, et al. J Cell Mol Med. 2011 Feb;15(2):445-56. doi: 10.1111/j.1582-4934.2009.00819.x. J Cell Mol Med. 2011. PMID: 19538466 Free PMC article.
Mitochondria and ageing.
Müller-Höcker J. Müller-Höcker J. Brain Pathol. 1992 Apr;2(2):149-58. doi: 10.1111/j.1750-3639.1992.tb00683.x. Brain Pathol. 1992. PMID: 1341956 Review.
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD. Jaksch M, et al. J Med Genet. 1998 Nov;35(11):895-900. doi: 10.1136/jmg.35.11.895. J Med Genet. 1998. PMID: 9832034 Free PMC article.
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