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

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 heterotrimer. AS is rare, but it accounts for >1% of...

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Detalles Bibliográficos
Autores principales: Gross, Oliver, Kashtan, Clifford E., Rheault, Michelle N., Flinter, Frances, Savige, Judith, Miner, Jeffrey H., Torra, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837236/
https://www.ncbi.nlm.nih.gov/pubmed/27190345
http://dx.doi.org/10.1093/ndt/gfw095

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