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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

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Main Authors: Lausberg, Eva (Author) , Gießelmann, Sebastian (Author) , Dewulf, Joseph P. (Author) , Wiame, Elsa (Author) , Holz, Anja (Author) , Salvarinova, Ramona (Author) , Karnebeek, Clara D. van (Author) , Klemm, Patricia (Author) , Ohl, Kim (Author) , Mull, Michael (Author) , Braunschweig, Till (Author) , Weis, Joachim (Author) , Sommer, Clemens J. (Author) , Demuth, Stephanie (Author) , Haase, Claudia (Author) , Stollbrink-Peschgens, Claudia (Author) , Debray, François-Guillaume (Author) , Libioulle, Cecile (Author) , Choukair, Daniela (Author) , Oommen, Prasad T. (Author) , Borkhardt, Arndt (Author) , Surowy, Harald (Author) , Wieczorek, Dagmar (Author) , Wagner, Norbert (Author) , Meyer, Robert (Author) , Eggermann, Thomas (Author) , Begemann, Matthias (Author) , Schaftingen, Emile Van (Author) , Häusler, Martin (Author) , Tenbrock, Klaus (Author) , Heuvel, Lambert van den (Author) , Elbracht, Miriam (Author) , Kurth, Ingo (Author) , Kraft, Florian (Author)
Format: Article (Journal)
Language:English
Published: May 4, 2021
In: The journal of clinical investigation
Year: 2021, Volume: 131, Issue: 12, Pages: 1-12
ISSN:1558-8238
DOI:10.1172/JCI143078
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1172/JCI143078
Verlag, lizenzpflichtig, Volltext: https://www.jci.org/articles/view/143078
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Author Notes: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
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Physical Description:Online Resource
ISSN:1558-8238
DOI:10.1172/JCI143078

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