Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

BACKGROUND: Proteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Gräsbeck syndrome (IGS), which is characterized by intestinal malabsorp...

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Bibliografiske detaljer
Udgivet i:J Clin Invest
Main Authors: Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaudé, Laure, Tête, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J., Schäfer, Tobias, Pape, Lars, Gödel, Markus, Huber, Tobias B., Benz, Marcus, Klaus, Günter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Morinière, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschké, Patrick, Ahluwalia, Tarunveer S., Köttgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, Simons, Matias
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2019
Fag:
Clinical Medicine
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6934218/
https://ncbi.nlm.nih.gov/pubmed/31613795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI129937
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