Advances and unmet needs in genetic, basic and clinical science in 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.

Detalles Bibliográficos
Autores: Gross, Oliver|||0000-0002-8390-8852, Kashtan, Clifford E., Rheault, Michelle N., Flinter, Frances, Savige, Judith, Miner, Jeffrey H., Torra Balcells, Roser|||0000-0001-8714-2332, Ars, Elisabet|||0000-0002-4118-4358, Deltas, Constantinos|||0000-0001-5549-9169, Savva, Isavella, Perin, Laura, Renieri, Alessandra|||0000-0002-0846-9220, Ariani, Francesca, Mari, Francesca, Baigent, Colin, Judge, Parminder, Knebelman, Bertrand, Heidet, Laurence|||0000-0002-1362-5515, Lagas, Sharon, Blatt, Dave, Ding, Jie, Zhang, Yanqin, Gale, Daniel|||0000-0002-9170-1579, 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|||0000-0001-5347-7441, Turner, A. Neil|||0000-0003-4547-873X, Lennon, Rachel|||0000-0001-6400-0227
Tipo de recurso: artículo
Fecha de publicación:2017
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:188577
Acceso en línea:https://ddd.uab.cat/record/188577
https://dx.doi.org/urn:doi:10.1093/ndt/gfw095
Access Level:acceso abierto
Palabra clave:Alport syndrome
Chronic kidney disease
Guidelines
Hereditary kidney disease
Nephroprotection
Descripción
Sumario: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.

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