Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family

Genetic causes of steroid-resistant nephrotic syndrome are being increasingly recognized. Mutations in NPHS2, which encodes the glomerular protein podocin, account for up to 17% of sporadic and 40% of familial cases, where they display an autosomal-recessive pattern of inheritance. This report descr...

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Detalles Bibliográficos
Autores principales: Jain, Vani, Feehally, John, Jones, Gabriela, Robertson, Lisa, Nair, Dheepa, Vasudevan, Pradeep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Clinical Cases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377750/
https://www.ncbi.nlm.nih.gov/pubmed/25852895
http://dx.doi.org/10.1093/ckj/sfu028

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