TY  - JOUR 
AU  - Puertas Neyra, Kevin Louis
AU  - Coco Martín, Rosa María
AU  - Hernández Rodríguez, Leticia Adriana
AU  - Gobelli, Dino Joaquin
AU  - García Ferrer, Yenisey
AU  - Palma Vecino, Raicel
AU  - Tellería Orriols, Juan José
AU  - Simarro Grande, María
AU  - Fuente García, Miguel Ángel de la
AU  - Fernández Bueno, Iván
PY  - 2024
SN  - 1757-6512
UR  - https://uvadoc.uva.es/handle/10324/68995
AB  - 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...
LA  - eng
PB  - BMC Part of Springer Nature
KW  - iPSC, Retinal diseases, PROM1 gene, CD133, Retinitis pigmentosa, Cone-rod dystrophy, Stargardt’s type 4 disease
TI  - Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes
DO  - 10.1186/s13287-024-03804-2
ER  -