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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Lovric, Svjetlana; Goncalves, Sara; Gee, Heon Yungy; Oskouian, Babak; Srinivas, Honnappa; Choi, Won-Il; Shril, Shirlee; Ashraf, Shazia; Tan, Weizhen; Rao, Jia; Airik, Merlin; Schapiro, David; Braun, Daniela A.; Sadowski, Carolin E.; Widmeier, Eugen; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Girik, Vladimir; Capitani, Guido; Suh, Jung H.; Lachaussée, Noëlle; Arrondel, Christelle; Patat, Julie; Gribouval, Olivier; Furlano, Monica; Boyer, Olivia; Schmitt, Alain; Vuiblet, Vincent; Hashmi, Seema; Wilcken, Rainer; Bernier, Francois P.; Innes, A. Micheil; Parboosingh, Jillian S.; Lamont, Ryan E.; Midgley, Julian P.; Wright, Nicola; Majewski, Jacek; Zenker, Martin; Schaefer, Franz; Kuss, Navina; Greil, Johann; Giese, Thomas; Schwarz, Klaus; Catheline, Vilain; Schanze, Denny; Franke, Ingolf; Sznajer, Yves; Truant, Anne S.; Adams, Brigitte; Desir, Julie; Biemann, Ronald; Pei, York; Ars, Elisabet; Lloberas Blanch, Núria; Madrid, Alvaro; Dharnidharka, Vikas R.; Connolly, Anne M.; Willing, Marcia C.; Cooper, Megan A.; Lifton, Richard P; Simons, Matias; Riezman, Howard; Antignac, Corinne; Saba, Julie D.; Hildebrandt, Friedhelm
-Síndrome nefròtica
-Insuficiència renal crònica
-Nephrotic syndrome
-Chronic renal failure
(c) American Society for Clinical Investigation, 2017
Article
Article - Versió publicada
American Society for Clinical Investigation
         

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