Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

INTRODUCTION: Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment). One of the most frequent variants identified in this gene and among these patients is the p.(Cys759Phe) change. However, the pathogenic role of this allele has...

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Detalles Bibliográficos
Autores principales: Pérez-Carro, Raquel, Blanco-Kelly, Fiona, Galbis-Martínez, Lilián, García-García, Gema, Aller, Elena, García-Sandoval, Blanca, Mínguez, Pablo, Corton, Marta, Mahíllo-Fernández, Ignacio, Martín-Mérida, Inmaculada, Avila-Fernández, Almudena, Millán, José M., Ayuso, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005481/
https://www.ncbi.nlm.nih.gov/pubmed/29912909
http://dx.doi.org/10.1371/journal.pone.0199048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005481/
https://www.ncbi.nlm.nih.gov/pubmed/29912909
http://dx.doi.org/10.1371/journal.pone.0199048

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