Article
Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.
Stem cell research & therapy - 2 Jul 2024
Puertas-Neyra Kevin, Coco-Martin Rosa M, Hernandez-Rodriguez Leticia A, Gobelli Dino, Garcia-Ferrer Yenisey, Palma-Vecino Raicel, Tellería Juan José, Simarro Maria, de la Fuente Miguel A, Fernandez-Bueno Ivan
Abstract excerpt
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 financial burden due to the lack of understanding of a significant part of its pathophysiology, molecular diagnosis, and...
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