Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, which causes missplicing and premature termination, but the basis of this sensitivity is unclear. Here...

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Detalles Bibliográficos
Autores principales: Parfitt, David A., Lane, Amelia, Ramsden, Conor M., Carr, Amanda-Jayne F., Munro, Peter M., Jovanovic, Katarina, Schwarz, Nele, Kanuga, Naheed, Muthiah, Manickam N., Hull, Sarah, Gallo, Jean-Marc, da Cruz, Lyndon, Moore, Anthony T., Hardcastle, Alison J., Coffey, Peter J., Cheetham, Michael E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899423/
https://www.ncbi.nlm.nih.gov/pubmed/27151457
http://dx.doi.org/10.1016/j.stem.2016.03.021

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