Blar i Department of Clinical Medicine på tidsskrift "Nucleic Acids Research (NAR)"
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DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion
(Journal article; Peer reviewed, 2021)Mutations in POLG, encoding POLγA, the catalytic subunit of the mitochondrial DNA polymerase, cause a spectrum of disorders characterized by mtDNA instability. However, the molecular pathogenesis of POLG-related diseases ...