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Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes

Abstract Background Inherited retinal dystrophies (IRD) are one of the main causes of incurable blindness worldwide. IRD are caused by mutations in genes that encode essential proteins for the retina, leading to photoreceptor degeneration and loss of visual function. IRD generates an enormous global...

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Bibliografiske detaljer
Principais autores: Kevin Puertas-Neyra, Rosa M. Coco-Martin, Leticia A. Hernandez-Rodriguez, Dino Gobelli, Yenisey Garcia-Ferrer, Raicel Palma-Vecino, Juan José Tellería, Maria Simarro, Miguel A. de la Fuente, Ivan Fernandez-Bueno
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2024-07-01
Serier:Stem Cell Research & Therapy
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Online adgang:https://doi.org/10.1186/s13287-024-03804-2
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