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Characterization of CRB1 splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants

BACKGROUND: Mutations in the human crumbs homologue 1 (CRB1) gene are associated with a spectrum of inherited retinal diseases. However, functional studies demonstrating the impact of individual CRB1 mutations on gene expression are lacking for most variants. Here, we investigated the effect of two...

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Detalles Bibliográficos
Autores principales:	Zhang, Xiao, Thompson, Jennifer A., Zhang, Dan, Charng, Jason, Arunachalam, Sukanya, McLaren, Terri L., Lamey, Tina M., De Roach, John N., Jennings, Luke, McLenachan, Samuel, Chen, Fred K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667350/ https://www.ncbi.nlm.nih.gov/pubmed/32931148 http://dx.doi.org/10.1002/mgg3.1489

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