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Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.
Horváth R, Scharfe C, Hoeltzenbein M, Do BH, Schröder C, Warzok R, Vogelgesang S, Lochmüller H, Müller-Höcker J, Gerbitz KD, Oefner PJ, Jaksch M. Horváth R, et al. Among authors: gerbitz kd. J Med Genet. 2002 Nov;39(11):812-6. doi: 10.1136/jmg.39.11.812. J Med Genet. 2002. PMID: 12414820 Free PMC article. No abstract available.
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. Among authors: gerbitz kd. 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.
Glucagon receptor gene mutation in NIDDM.
Jaksch M, Hofmann S, Gerbitz KD. Jaksch M, et al. Among authors: gerbitz kd. Diabetologia. 1996 Feb;39(2):248. doi: 10.1007/BF00403973. Diabetologia. 1996. PMID: 8635682 No abstract available.
MITOP, the mitochondrial proteome database: 2000 update.
Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Dembowski M, Lill R, Prokisch H, Gerbitz KD, Neupert W, Mewes HW, Meitinger T. Scharfe C, et al. Among authors: gerbitz kd. Nucleic Acids Res. 2000 Jan 1;28(1):155-8. doi: 10.1093/nar/28.1.155. Nucleic Acids Res. 2000. PMID: 10592209 Free PMC article.
89 results