Article
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.
Human genetics - 1 Sept 2015
Kaliszewska Magdalena, Kruszewski Jakub, Kierdaszuk Biruta, Kostera-Pruszczyk Anna, Nojszewska Monika, Łusakowska Anna, Vizueta Joel, Sabat Dorota, Lutyk Dorota, Lower Michał, Piekutowska-Abramczuk Dorota, Kaniak-Golik Aneta, Pronicka Ewa, Kamińska Anna, Bartnik Ewa, Golik Paweł, Tońska Katarzyna
Abstract excerpt
Replication of the mitochondrial genome depends on the single DNA polymerase (pol gamma). Mutations in the POLG gene, encoding the catalytic subunit of the human polymerase gamma, have been linked to a wide variety of mitochondrial disorders that show remarkable heterogeneity, with more than 200 sequence variants, often very rare, found in patients. The pathogenicity and dominance status of many such mutations...
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