Cargando…

Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells

Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterized by the preferential loss of retinal ganglion cells (RGCs), resulting in optic nerve degeneration and progressive bilateral central vision loss. More than 60% of genetically confirmed patients with DOA...

Descripción completa

Detalles Bibliográficos
Autores principales: Sladen, Paul E, Jovanovic, Katarina, Guarascio, Rosellina, Ottaviani, Daniele, Salsbury, Grace, Novoselova, Tatiana, Chapple, J Paul, Yu-Wai-Man, Patrick, Cheetham, Michael E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9558835/
https://www.ncbi.nlm.nih.gov/pubmed/35652445
http://dx.doi.org/10.1093/hmg/ddac128