Browsing by Author "Judge, P."
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Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: Report from the 2015 International Workshop on Alport Syndrome
Gross, O.; Kashtan, C. E.; Rheault, M. N.; Flinter, F.; Savige, J.; Miner, J. H.; Torra, R.; Ars, E.; Constantinou-Deltas, Constantinos D.; Savva, Isavella; Perin, L.; Renieri, A.; Ariani, F.; Mari, F.; Baigent, C.; Judge, P.; Knebelman, B.; Heidet, L.; Lagas, S.; Blatt, D.; Ding, J.; Zhang, Y.; Gale, D. P.; Prunotto, M.; Xue, Y.; Schachter, A. D.; Morton, L. C. G.; Blem, J.; Huang, M.; Liu, S.; Vallee, S.; Renault, D.; Schifter, J.; Skelding, J.; Gear, S.; Friede, T.; Turner, A. N.; Lennon, R. (2017)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 ...