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Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis

Leber congenital amaurosis type 4 (LCA4), caused by AIPL1 mutations, is characterized by severe sight impairment in infancy and rapidly progressing degeneration of photoreceptor cells. We generated retinal organoids using induced pluripotent stem cells (iPSCs) from renal epithelial cells obtained fr...

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Detalles Bibliográficos
Autores principales:	Leung, Amy, Sacristan-Reviriego, Almudena, Perdigão, Pedro R.L., Sai, Hali, Georgiou, Michalis, Kalitzeos, Angelos, Carr, Amanda-Jayne F., Coffey, Peter J., Michaelides, Michel, Bainbridge, James, Cheetham, Michael E., van der Spuy, Jacqueline
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561542/ https://www.ncbi.nlm.nih.gov/pubmed/36084639 http://dx.doi.org/10.1016/j.stemcr.2022.08.005

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