Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

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Authors: Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F. Hoffmann, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Johannes A. Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk

Journal title: Nature Communications

Journal number: 7

Journal publisher: Nature Publishing Group

Published year: 2016

Published pages: 12039

DOI identifier: 10.1038/ncomms12039

ISSN: 2041-1723