Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation

BACKGROUND: Mutations in podocin (NPHS2) are the most common cause of childhood onset autosomal recessive steroid-resistant nephrotic syndrome (SRNS). The disease is characterized by early-onset proteinuria, resistance to immunosuppressive therapy and rapid progression to end-stage renal disease. Co...

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Detalles Bibliográficos
Autores principales: Phelan, Paul J., Hall, Gentzon, Wigfall, Delbert, Foreman, John, Nagaraj, Shashi, Malone, Andrew F., Winn, Michelle P., Howell, David N., Gbadegesin, Rasheed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581382/
https://www.ncbi.nlm.nih.gov/pubmed/26413278
http://dx.doi.org/10.1093/ckj/sfv063

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