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A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S. Kurt B, et al. Among authors: copeland wc. Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332. Arch Neurol. 2010. PMID: 20142534 Free PMC article.
Defects of mitochondrial DNA replication.
Copeland WC. Copeland WC. J Child Neurol. 2014 Sep;29(9):1216-24. doi: 10.1177/0883073814537380. Epub 2014 Jun 30. J Child Neurol. 2014. PMID: 24985751 Free PMC article. Review.
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB. Varma H, et al. Among authors: copeland wc. Eur J Med Genet. 2016 Oct;59(10):540-5. doi: 10.1016/j.ejmg.2016.08.012. Epub 2016 Aug 31. Eur J Med Genet. 2016. PMID: 27592148 Free PMC article.
Mitochondrial DNA alterations in cancer.
Copeland WC, Wachsman JT, Johnson FM, Penta JS. Copeland WC, et al. Cancer Invest. 2002;20(4):557-69. doi: 10.1081/cnv-120002155. Cancer Invest. 2002. PMID: 12094550 Review.
149 results