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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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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 |
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