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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Detaylı Bibliyografya
Yayımlandı:Hum Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2015
Konular:
Original Investigation
Online Erişim: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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