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Human retinal organoids harboring IMPG2 mutations exhibit a photoreceptor outer segment phenotype that models advanced retinitis pigmentosa

Interphotoreceptor matrix proteoglycan 2 (IMPG2) mutations cause a severe form of early-onset retinitis pigmentosa (RP) with macular involvement. IMPG2 is expressed by photoreceptors and incorporated into the matrix that surrounds the inner and outer segments (OS) of rods and cones, but the mechanis...

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Detalles Bibliográficos
Autores principales: Mayerl, Steven J., Bajgai, Simona, Ludwig, Allison L., Jager, Lindsey D., Williams, Brittany N., Bacig, Cole, Stoddard, Christopher, Sinha, Divya, Philpot, Benjamin D., Gamm, David M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9669399/
https://www.ncbi.nlm.nih.gov/pubmed/36206764
http://dx.doi.org/10.1016/j.stemcr.2022.09.004