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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. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
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. J Exp Integr Med. 2012;2(2):10.5455/jeim.200312.cr.001. doi: 10.5455/jeim.200312.cr.001. J Exp Integr Med. 2012. PMID: 24265579 Free PMC article.