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 (...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2017
Aiheet:
Articles
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia