Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Autor: Dahan, Karin, Benoit, Stéphane, Dieguez, Stella, Champion, Gerard, Janner, Marco, Treard, Cyrielle, Dehoux, Laurenne, Cartery, Claire, Emma, Francesco, Cardon, Gérard, Ulinski, Tim, Bourdat-Michel, Guylhène, Novo, Robert, Lourdel, Stéphane, Mansour-Hendili, Lamisse, De La Faille, Renaud, Tiple, Aurélien, Devuyst, Olivier, González, Wendy, Hannedouche, Thierry, Bérard, Etienne, Holder-Espinasse, Muriel, Morin, Gilles, Vargas-Poussou, Rosa, Macher, Marie-Alice, Fischbach, Michel, Sellier-Leclerc, Anne-Laure, François, Hélène, Loirat, Chantal, Deschenes, Georges, Van Regemorter, Nicole, Nobili, François, Morin, Denis, Schleich, Andreas, Niaudet, Patrick, Roussey-Kesler, Gwenaëlle, Blanchard, Anne, Bacchetta, Justine, Vergara-Jaque, Ariela, Chauveau, Dominique, Martin-Coignard, Dominique, Leroy, Valérie, Faivre, Laurence, Izzedine, Hassan, Cochat, Pierre, Fouque, Denis, Soulami, Kenza, Lavocat, Marie-Pierre, Knebelmann, Bertrand, Lemoine, Sandrine, Nivet, Hubert, Jeunemaître, Xavier, Karras, Alexandre, Cailliez, Mathilde, Gilbert-Dussardier, Brigitte, Le Pottier, Nelly, Baudouin, Véronique, Fourcade, Jacques, Debray, François-Guillaume, Desport, Estelle, Roncelin, Isabelle, Rigothier, Claire, Bouchireb, Karim, Vanhille, Philippe, Colin, Estelle, Salomon, Remi, Burtey, Stéphane, Houillier, Pascal

Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions. It o

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