The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Pathogenic variants in RPE65 lead to retinal diseases, causing a vision impairment. In this work, we investigated the pathomechanism behind the frequent RPE65 variant, c.11+5G>A. Previous in silico predictions classified this change as a splice variant. Our prediction using novel software’s sugge...

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Detalles Bibliográficos
Autores principales: Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C. W., Post, Merel A., van Oosten, Edwin M., O’Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D. M., Kroes, Hester Y., Gilissen, Christian, Cremers, Frans P. M., Collin, Rob W. J., Roosing, Susanne, Garanto, Alejandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9688607/
https://www.ncbi.nlm.nih.gov/pubmed/36429068
http://dx.doi.org/10.3390/cells11223640

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