COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage

Leber congenital amaurosis (LCA), a form of autosomal recessive severe early-onset retinal degeneration, is an important cause of childhood blindness. This may be associated with systemic features or not. Here we identified COG5 compound-heterozygous variants in patients affected with a complex LCA...

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Detalles Bibliográficos
Autores principales: Tabbarah, Sami, Tavares, Erika, Charish, Jason, Vincent, Ajoy, Paterson, Andrew, Di Scipio, Matteo, Yin, Yue, Mendoza-Londono, Roberto, Maynes, Jason, Heon, Elise, Monnier, Philippe P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718911/
https://www.ncbi.nlm.nih.gov/pubmed/33277529
http://dx.doi.org/10.1038/s41598-020-77394-3

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