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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
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 |