Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. IRDs are caused by mutations in >250 genes. Variants...

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Detalles Bibliográficos
Autores principales: Aoun, Manar, Passerini, Ilaria, Chiurazzi, Pietro, Karali, Marianthi, De Rienzo, Irene, Sartor, Giovanna, Murro, Vittoria, Filimonova, Natalia, Seri, Marco, Banfi, Sandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268668/
https://www.ncbi.nlm.nih.gov/pubmed/34281261
http://dx.doi.org/10.3390/ijms22137207

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268668/
https://www.ncbi.nlm.nih.gov/pubmed/34281261
http://dx.doi.org/10.3390/ijms22137207

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