Different Inactivating Mutations of the Mineralocorticoid Receptor in Fourteen Families Affected by Type I Pseudohypoaldosteronism

Author:

Sartorato Paola12,Lapeyraque Anne-Laure3,Armanini Decio2,Kuhnle Ursula4,Khaldi Yasmina1,Salomon Rémi5,Abadie Véronique6,Di Battista Eliana7,Naselli Arturo7,Racine Alain8,Bosio Maurizio1,Caprio Massimiliano9,Poulet-Young Véronique10,Chabrolle Jean-Pierre10,Niaudet Patrick5,De Gennes Christiane11,Lecornec Marie-Hélène1,Poisson Elodie1,Fusco Anna Maria12,Loli Paola12,Lombès Marc1,Zennaro Maria-Christina1

Affiliation:

1. Institut National de la Santé et de la Recherche Médicale, Unité 478, Faculté de Médecine Xavier Bichat (P.S., Y.K., M.-H.L., E.P., M.L., M.-C.Z.), 75018 Paris, France

2. Division of Endocrinology (P.S., D.A.), Department of Medical and Surgical Sciences, University of Padova, 35100 Padova, Italy

3. Division of Nephrology, Robert Debré Hospital (A.-L.L.), 75019 Paris, France

4. Division of Pediatric Endocrinology (U.K.), Department of Pediatrics, Ludwig Maximilian University of Munich, 80337 Munich, Germany

5. Division of Nephrology (R.S., P.N.), 75015 Paris, France

6. Division of General Pediatrics (V.A.), Department of Pediatrics, Necker-Enfants Malades Hospital, 75015 Paris, France

7. Institute G. Gaslini (E.D.B., A.N.), Division of Pediatrics I, 16148 Genova, Italy

8. Henri Mondor Hospital (A.R.), 15002 Aurillac, France; Centro Diagnostico Italiano (M.B.), 20147 Milan, Italy

9. Department of Internal Medicine (M.C.), Chair of Endocrinology, University Roma “Tor Vergata,” 00133 Rome, Italy

10. Division of Neonatology (V.P-Y., J.P.C.), Le Havre Hospital, 76083 Le Havre, France

11. Division of Pediatrics (C.D.G.), Orsay General Hospital, 91405 Orsay, France

12. Department of Endocrinology (A.M.F., P.L.), Niguarda Ca’Granda Hospital, 20162 Milan, Italy

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

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