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The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
Livesey KJ, Wimhurst VL, Carter K, Worwood M, Cadet E, Rochette J, Roberts AG, Pointon JJ, Merryweather-Clarke AT, Bassett ML, Jouanolle AM, Mosser A, David V, Poulton J, Robson KJ. Livesey KJ, et al. Among authors: poulton j. J Med Genet. 2004 Jan;41(1):6-10. doi: 10.1136/jmg.2003.008805. J Med Genet. 2004. PMID: 14729817 Free PMC article.
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Ng YS, et al. Among authors: poulton j. Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187502 Free PMC article.
Risk of developing a mitochondrial DNA deletion disorder.
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: poulton j. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359
Mitochondrial DNA and genetic disease.
Poulton J. Poulton J. Bioessays. 1992 Nov;14(11):763-8. doi: 10.1002/bies.950141108. Bioessays. 1992. PMID: 1365889 Review.
299 results