A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. The majority of mutations are linked with disturbances of mitochondrial DNA (...

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Udgivet i:Hum Mol Genet
Main Authors: Siibak, Triinu, Clemente, Paula, Bratic, Ana, Bruhn, Helene, Kauppila, Timo E.S., Macao, Bertil, Rosenberger, Florian A., Lesko, Nicole, Wibom, Rolf, Naess, Karin, Nennesmo, Inger, Wedell, Anna, Peter, Bradley, Freyer, Christoph, Falkenberg, Maria, Wredenberg, Anna
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2017
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886115/
https://ncbi.nlm.nih.gov/pubmed/28430993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx146
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