Advances and unmet needs in genetic, basic and clinical science in Alport syndrome : report from the 2015 International Workshop on Alport Syndrome

Autor: Gross, Oliver, Kashtan, Clifford E., Rheault, Michelle N., Flinter, Frances, Savige, Judith, Miner, Jeffrey H., Torra Balcells, Roser, Ars, Elisabet, Deltas, Constantinos, Savva, Isavella, Perin, Laura, Renieri, Alessandra, Ariani, Francesca, Mari, Francesca, Baigent, Colin, Judge, Parminder, Knebelman, Bertrand, Heidet, Laurence, Lagas, Sharon, Blatt, Dave, Ding, Jie, Zhang, Yanqin, Gale, Daniel P., Prunotto, Marco, Xue, Yong, Schachter, Asher D., Morton, Lori C. G., Blem, Jacqui, Huang, Michael, Liu, Shiguang, Vallee, Sebastien, Renault, Daniel, Schifter, Julia, Skelding, Jules, Gear, Susie, Friede, Tim, Turner, A. Neil, Lennon, Rachel, Universitat Autònoma de Barcelona

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)

Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d19c4ada212fa825ab9c080b364e697a
http://hdl.handle.net/2072/428468

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