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Siibak, Triinu, Clemente, Paula, Bratic, Ana, Bruhn, Helene, Kauppila, Timo E. S., Macao, Bertil, Schober, Florian A., Lesko, Nicole, Wibom, Rolf, Naess, Karin 
ORCID: 0000-0003-4310-7927, Nennesmo, Inger, Wedell, Anna, Peter, Bradley, Freyer, Christoph ORCID: 0000-0003-0418-1673, Falkenberg, Maria and Wredenberg, Anna ORCID: 0000-0002-2500-6121
(2017).
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Hum. Mol. Genet., 26 (13).
S. 2515 - 2526.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Silva-Pinheiro, Pedro ORCID: 0000-0002-0872-5749, Pardo-Hernandez, Carlos, Reyes, Aurelio ORCID: 0000-0003-2876-2202, Tilokani, Lisa, Mishra, Anup, Cerutti, Raffaele, Li, Shuaifeng, Rozsivalova, Dieu-Hien, Valenzuela, Sebastian ORCID: 0000-0001-5153-8431, Dogan, Sukru A., Peter, Bradley, Fernandez-Silva, Patricio, Trifunovic, Aleksandra, Prudent, Julien, Minczuk, Michal ORCID: 0000-0001-8242-1420, Bindoff, Laurence, Macao, Bertil, Zeviani, Massimo ORCID: 0000-0002-9067-5508, Falkenberg, Maria and Viscomi, Carlo ORCID: 0000-0001-6050-0566
(2021).
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
Nucleic Acids Res., 49 (9).
S. 5230 - 5249.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962
Silva-Pinheiro, Pedro ORCID: 0000-0002-0872-5749, Pardo-Hernandez, Carlos, Reyes, Aurelio ORCID: 0000-0003-2876-2202, Tilokani, Lisa, Mishra, Anup, Cerutti, Raffaele, Li, Shuaifeng, Rozsivalova, Dieu-Hien, Valenzuela, Sebastian ORCID: 0000-0001-5153-8431, Dogan, Sukru A., Peter, Bradley, Fernandez-Silva, Patricio, Trifunovic, Aleksandra, Prudent, Julien, Minczuk, Michal ORCID: 0000-0001-8242-1420, Bindoff, Laurence, Macao, Bertil, Zeviani, Massimo, Falkenberg, Maria and Viscomi, Carlo ORCID: 0000-0001-6050-0566
(2021).
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion (vol 49, pg 5230, 2021).
Nucleic Acids Res., 49 (18).
S. 10803 - 10804.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1362-4962