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Autor:
Ugo Vertolli, Josef Nachtigal, Augusto Antonello, Ermanno De Paoli Vitali, R. Graziotto, Michele Piva, Riccardo Zagatti, Franca Anglani, Angela D'Angelo, Enrica Tosetto, Carmelo Cascone, Giovanni Gambaro, L. Artifoni, L. Citron, Federico Nalesso, Antonio Lupo, Piero Conz, Roberto Dell'Aquila
Publikováno v:
Journal of Human Genetics. 51:25-30
Dent’s disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD