C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
May 4, 2021
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| In: |
The journal of clinical investigation
Year: 2021, Jahrgang: 131, Heft: 12, Pages: 1-12 |
| ISSN: | 1558-8238 |
| DOI: | 10.1172/JCI143078 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1172/JCI143078 Verlag, lizenzpflichtig, Volltext: https://www.jci.org/articles/view/143078 |
| Verfasserangaben: | Eva Lausberg, Sebastian Gießelmann, Joseph P. Dewulf, Elsa Wiame, Anja Holz, Ramona Salvarinova, Clara D. van Karnebeek, Patricia Klemm, Kim Ohl, Michael Mull, Till Braunschweig, Joachim Weis, Clemens J. Sommer, Stephanie Demuth, Claudia Haase, Claudia Stollbrink-Peschgens, François-Guillaume Debray, Cecile Libioulle, Daniela Choukair, Prasad T. Oommen, Arndt Borkhardt, Harald Surowy, Dagmar Wieczorek, Norbert Wagner, Robert Meyer, Thomas Eggermann, Matthias Begemann, Emile Van Schaftingen, Martin Häusler, Klaus Tenbrock, Lambert van den Heuvel, Miriam Elbracht, Ingo Kurth, and Florian Kraft |
MARC
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