Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

IMPORTANCE: This research is the single largest NR2E3 genotype-phenotype correlation study performed to date in autosomal dominant Retinitis Pigmentosa. OBJECTIVE: The aim of this study is to analyse the frequency of the p.Gly56Arg mutation in NR2E3 for the largest cohort of autosomal dominant Retin...

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Detalles Bibliográficos
Autores principales: Blanco-Kelly, Fiona, García Hoyos, María, Lopez Martinez, Miguel Angel, Lopez-Molina, Maria Isabel, Riveiro-Alvarez, Rosa, Fernandez-San Jose, Patricia, Avila-Fernandez, Almudena, Corton, Marta, Millan, Jose M., García Sandoval, Blanca, Ayuso, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766102/
https://www.ncbi.nlm.nih.gov/pubmed/26910043
http://dx.doi.org/10.1371/journal.pone.0149473

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766102/
https://www.ncbi.nlm.nih.gov/pubmed/26910043
http://dx.doi.org/10.1371/journal.pone.0149473

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