The importance of clinician, patient and researcher collaborations in Alport syndrome

Alport syndrome is caused by mutations in the genes COL4A3, COL4A4 or COL4A5 and is characterised by progressive glomerular disease, sensorineural hearing loss and ocular defects. Occurring in less than 1:5000, Alport syndrome is a rare genetic disorder but still accounts for > 1% of the prevalen...

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Detalles Bibliográficos
Autores principales: Rheault, Michelle N., Savige, Judith, Randles, Michael J., Weinstock, André, Stepney, Melissa, Turner, A Neil, Parziale, Gina, Gross, Oliver, Flinter, Frances A, Miner, Jeffrey H, Lagas, Sharon, Gear, Susie, Lennon, Rachel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096363/
https://www.ncbi.nlm.nih.gov/pubmed/31044288
http://dx.doi.org/10.1007/s00467-019-04241-7

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