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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Detaylı Bibliyografya
Yayımlandı:J Clin Invest
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 2019
Konular:
Clinical Medicine
Online Erişim: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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