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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Richard Lifton, Véronique Frémeaux-Bacchi and colleagues report that recessive mutations in DGKE cause atypical hemolytic-uremic syndrome with an early age of onset progressing to chronic kidney disease. The authors propose that loss of DGKE results in a prothrombotic state that underlies disease...

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Main Authors: Lemaire, Mathieu (Author) , Frémeaux-Bacchi, Véronique (Author) , Schaefer, Franz (Author) , Choi, Murim (Author) , Tang, Wai Ho (Author) , Le Quintrec, Moglie (Author) , Fakhouri, Fadi (Author) , Taque, Sophie (Author) , Nobili, François (Author) , Martinez, Frank (Author) , Ji, Weizhen (Author) , Overton, John D. (Author) , Mane, Shrikant M. (Author) , Nürnberg, Gudrun (Author) , Altmüller, Janine (Author) , Thiele, Holger (Author) , Morin, Denis (Author) , Deschenes, Georges (Author) , Baudouin, Véronique (Author) , Llanas, Brigitte (Author) , Collard, Laure (Author) , Majid, Mohammed A. (Author) , Simkova, Eva (Author) , Nürnberg, Peter (Author) , Rioux-Leclerc, Nathalie (Author) , Moeckel, Gilbert W. (Author) , Gubler, Marie Claire (Author) , Hwa, John (Author) , Loirat, Chantal (Author) , Lifton, Richard P. (Author)
Format: Article (Journal)
Language:English
Published: 31 March 2013
In: Nature genetics
Year: 2013, Volume: 45, Issue: 5, Pages: 531-536
ISSN:1546-1718
DOI:10.1038/ng.2590
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ng.2590
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ng.2590
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Author Notes:Mathieu Lemaire, Véronique Frémeaux-Bacchi, Franz Schaefer, Murim Choi, Wai Ho Tang, Moglie Le Quintrec, Fadi Fakhouri, Sophie Taque, François Nobili, Frank Martinez, Weizhen Ji, John D. Overton, Shrikant M. Mane, Gudrun Nürnberg, Janine Altmüller, Holger Thiele, Denis Morin, Georges Deschenes, Véronique Baudouin, Brigitte Llanas, Laure Collard, Mohammed A. Majid, Eva Simkova, Peter Nürnberg, Nathalie Rioux-Leclerc, Gilbert W. Moeckel, Marie Claire Gubler, John Hwa, Chantal Loirat & Richard P. Lifton
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Summary:Richard Lifton, Véronique Frémeaux-Bacchi and colleagues report that recessive mutations in DGKE cause atypical hemolytic-uremic syndrome with an early age of onset progressing to chronic kidney disease. The authors propose that loss of DGKE results in a prothrombotic state that underlies disease pathogenesis.
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Physical Description:Online Resource
ISSN:1546-1718
DOI:10.1038/ng.2590

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