Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa

The recurrent missense variant in Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3), c.166G>A, p.(Gly56Arg) or G56R, underlies 1%–2% of cases with autosomal dominant retinitis pigmentosa (adRP), a frequent, genetically heterogeneous inherited retinal disease (IRD). The mutant NR2E3 protein ha...

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Detalles Bibliográficos
Autores principales: Naessens, Sarah, Ruysschaert, Laurien, Lefever, Steve, Coppieters, Frauke, De Baere, Elfride
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562693/
https://www.ncbi.nlm.nih.gov/pubmed/31083481
http://dx.doi.org/10.3390/genes10050363

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