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A novel POLG gene mutation in a patient with SANDO.
Kurt B, Naini AB, Copeland WC, Lu J, Dimauro S, Hirano M. Kurt B, et al. Among authors: copeland wc. J Exp Integr Med. 2012;2(2):10.5455/ doi: 10.5455/ J Exp Integr Med. 2012. PMID: 24265579 Free PMC article.
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.
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.
Molecular diagnosis of Alpers syndrome.
Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK. Nguyen KV, et al. Among authors: copeland wc. J Hepatol. 2006 Jul;45(1):108-16. doi: 10.1016/j.jhep.2005.12.026. Epub 2006 Feb 20. J Hepatol. 2006. PMID: 16545482
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Among authors: copeland wc. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
150 results