The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1 is impor...

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Detalles Bibliográficos
Autores principales: Motta, Fabiana Louise, Salles, Mariana Vallim, Costa, Karita Antunes, Filippelli-Silva, Rafael, Martin, Renan Paulo, Sallum, Juliana Maria Ferraz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561187/
https://www.ncbi.nlm.nih.gov/pubmed/28819299
http://dx.doi.org/10.1038/s41598-017-09035-1

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