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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529462/
https://www.ncbi.nlm.nih.gov/pubmed/26077851
http://dx.doi.org/10.1007/s00439-015-1578-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529462/
https://www.ncbi.nlm.nih.gov/pubmed/26077851
http://dx.doi.org/10.1007/s00439-015-1578-x

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