R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria

Kidney International - Tập 71 - Trang 1155-1162 - 2007
G. Vezzoli1, A. Terranegra2, T. Arcidiacono1, R. Biasion2, D. Coviello3, M.L. Syren4, V. Paloschi1, S. Giannini5, G. Mignogna6, A. Rubinacci6, A. Ferraretto7, D. Cusi2,8, G. Bianchi1, L. Soldati2
1Nephrology and Dialysis Unit, Postgraduate School of Nephrology, Vita Salute University, IRCCS San Raffaele Hospital, Milan, Italy
2Postgraduate School of Nephrology, University of Milan, Milan, Italy
3Laboratory of Medical Genetics, IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena Hospital, Milan, Italy
4Institute of Pediatrics and Neonatology, University of Milan, Milan, Italy
5Department of Medical and Surgical Science, Policlinico of Padua, Padua, Italy
6Bone Metabolic Unit, IRCCS San Raffaele Hospital, Milan, Italy
7Department of Medical Chemistry, Biochemistry and Biotechnology, University of Milan, Milan, Italy
8Hypertension and Preventive Nephrology Unit, IRCCS Multimedica, Milan, Italy

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