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POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
Hum Mutat. 2003 Dec;22(6):498-9. doi: 10.1002/humu.9203.
Hum Mutat. 2003.
PMID: 14635118
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S, Zeviani M.
Spinazzola A, et al.
Arch Neurol. 2008 Aug;65(8):1108-13. doi: 10.1001/archneur.65.8.1108.
Arch Neurol. 2008.
PMID: 18695062
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Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V.
Naïmi M, et al.
Eur J Hum Genet. 2006 Aug;14(8):917-22. doi: 10.1038/sj.ejhg.5201627. Epub 2006 Apr 26.
Eur J Hum Genet. 2006.
PMID: 16639411
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