Associated Papers
Mitochondrial DNA Polymerase γ Mutations and Their Implications in mtDNA Alterations in Colorectal Cancer.
Linkowska K et al.
Annals of Human Genetics, 2015
Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.
Appenzeller S et al.
Developmental Medicine and Child Neurology, 2012
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe.
Craig K et al.
Brain : a Journal of Neurology, 2007
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
Luoma PT et al.
Human Molecular Genetics, 2005
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