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

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...

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Bibliografische gegevens
Hoofdauteurs: Gross, O, Kashtan, C, Rheault, M, Flinter, F, Savige, J, Miner, J, Torra, R, Ars, E, Deltas, C, Savva, I, 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, Prunotto, M, Xue, Y, Schachter, A, Morton, L, Blem, J, Huang, M, Liu, S, Vallee, S, Renault, D, Schifter, J, Skelding, J, Gear, S, Friede, T, Turner, A, Lennon, R
Formaat: Journal article
Taal:English
Gepubliceerd in: Oxford University Press 2016

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