Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

PURPOSE: Usher syndrome (USH) is the most common syndromic inherited retinal disease, causing retinitis pigmentosa and sensorineural hearing loss. We reported previously that a nonsense mutation in the centrosome-associated protein CEP250 gene (encoding C-Nap1) causes atypical USH in patients of Ira...

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Detalles Bibliográficos
Autores principales: Abu-Diab, Alaa, Gopalakrishnan, Prakadeeswari, Matsevich, Chen, de Jong, Marije, Obolensky, Alexey, Khalaileh, Ayat, Salameh, Manar, Ejzenberg, Ayala, Gross, Menachem, Banin, Eyal, Sharon, Dror, Khateb, Samer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987170/
https://www.ncbi.nlm.nih.gov/pubmed/36857066
http://dx.doi.org/10.1167/tvst.12.3.3

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