Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease

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 seq...

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Bibliografiske detaljer
Udgivet i:Hum Genet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2015
Fag:
Original Investigation
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4529462/
https://ncbi.nlm.nih.gov/pubmed/26077851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1578-x
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