Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

Disease-causing sequence variants in the highly polymorphic AIPL1 gene are associated with a broad spectrum of inherited retinal diseases ranging from severe autosomal recessive Leber congenital amaurosis to later onset retinitis pigmentosa. AIPL1 is a photoreceptor-specific co-chaperone that intera...

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Udgivet i:Sci Rep
Main Authors: Sacristan-Reviriego, Almudena, Le, Hoang Mai, Georgiou, Michalis, Meunier, Isabelle, Bocquet, Beatrice, Roux, Anne-Françoise, Prodromou, Chrisostomos, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7567831/
https://ncbi.nlm.nih.gov/pubmed/33067476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-74516-9
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