Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

Genetic diagnosis of steroid-resistant nephrotic syndrome (SRNS) using Sanger sequencing is complicated by the high genetic heterogeneity and phenotypic variability of this disease. We aimed to improve the genetic diagnosis of SRNS by simultaneously sequencing 26 glomerular genes using massive paral...

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Detalles Bibliográficos
Autores principales: Bullich, Gemma, Trujillano, Daniel, Santín, Sheila, Ossowski, Stephan, Mendizábal, Santiago, Fraga, Gloria, Madrid, Álvaro, Ariceta, Gema, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538209/
https://www.ncbi.nlm.nih.gov/pubmed/25407002
http://dx.doi.org/10.1038/ejhg.2014.252

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