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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Chiereghin, Chiara, Robusto, Michela, Mastrangelo, Antonio, Castorina, Pierangela, Montini, Giovanni, Giani, Marisa, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha: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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