Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Autor: Jacek Majewski, A. Madrid, Babak Oskouian, Yves Sznajer, Julie Désir, Julie Patat, York Pei, Megan A. Cooper, Weizhen Tan, Elisabet Ars, Monica Furlano, Anne-Sophie Truant, Alain Schmitt, Rainer Wilcken, Won-Il Choi, Navina Kuss, Carolin E. Sadowski, Corinne Antignac, Jillian S. Parboosingh, Vilain Catheline, Marcia C. Willing, Christelle Arrondel, Jia Rao, Vikas R. Dharnidharka, Johanna Magdalena Schmidt, Nicola A.M. Wright, Thomas Giese, Martin Zenker, Brigitte Adams, Franz Schaefer, Richard P. Lifton, Noelle Lachaussée, Merlin Airik, Ingolf Franke, Klaus Schwarz, Julie D. Saba, David Schapiro, Guido Capitani, Seema Hashmi, Howard Riezman, Ronald Biemann, Johann Greil, Vladimir Girik, Anne M Connolly, Shazia Ashraf, Nuria Lloberas, Julian P. Midgley, Denny Schanze, Svjetlana Lovric, Matias Simons, Friedhelm Hildebrandt, Sara Gonçalves, Vincent Vuiblet, Heon Yung Gee, Eugen Widmeier, Tilman Jobst-Schwan, Francois P. Bernier, A. Micheil Innes, Olivier Gribouval, Olivia Boyer, Jung H. Suh, Ryan E. Lamont, Honnappa Srinivas, Daniela A. Braun, Shirlee Shril

Publikováno v: Journal of Clinical Investigation, Vol. 127, no.3, p. 912-928 (2017)
JOURNAL OF CLINICAL INVESTIGATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Investigation, Vol. 127, No 3 (2017) pp. 912-928
Recercat. Dipósit de la Recerca de Catalunya
instname

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e691abe1f6479437ce05e74e30dfd7
https://hdl.handle.net/2078.1/204417