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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Original Investigation
Acesso em linha: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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