A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

BACKGROUND: Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopigments in retinal pigment epithelium. Five loci have been linked to RPA onset....

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Detalles Bibliográficos
Autores principales: Scimone, Concetta, Donato, Luigi, Esposito, Teresa, Rinaldi, Carmela, D’Angelo, Rosalia, Sidoti, Antonina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540190/
https://www.ncbi.nlm.nih.gov/pubmed/28764803
http://dx.doi.org/10.1186/s40246-017-0114-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540190/
https://www.ncbi.nlm.nih.gov/pubmed/28764803
http://dx.doi.org/10.1186/s40246-017-0114-6

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