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Journal Article

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

Freyer, Christoph ORCID: 0000-0003-0418-1673, Cree, Lynsey M., Mourier, Arnaud, Stewart, James B., Koolmeister, Camilla, Milenkovic, Dusanka, Wai, Timothy ORCID: 0000-0002-6770-6222, Floros, Vasileios I., Hagstrom, Erik, Chatzidaki, Emmanouella E., Wiesner, Rudolf J., Samuels, David C., Larsson, Nils-Goeran and Chinnery, Patrick F. (2012). Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission. Nature Genet., 44 (11). S. 1282 - 1286. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

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