Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. Despite simultaneous screening of these genes being widely available, mutation detection still remains incomplete in a non-marginal portion of patients. Here, we applied whole-exom...

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Publicado en:PLoS One
Autores principales: Chiereghin, Chiara, Robusto, Michela, Mastrangelo, Antonio, Castorina, Pierangela, Montini, Giovanni, Giani, Marisa, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2017
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5453569/
https://ncbi.nlm.nih.gov/pubmed/28570636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0178630
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