USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss

PURPOSE: Mutations in USH2A gene are responsible for the greatest proportion of the Usher Syndrome (USH) population, among which more than 30% are frameshift mutations on exon 13. A clinically relevant animal model has been absent for USH2A-related vision loss. Here we sought to establish a rabbit m...

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Detalles Bibliográficos
Autores principales: Nguyen, Van Phuc, Song, Jun, Prieskorn, Diane, Zou, Junhuang, Li, Yanxiu, Dolan, David, Xu, Jie, Zhang, Jifeng, Jayasundera, K. Thiran, Yang, Jun, Raphael, Yehoash, Khan, Naheed, Iannuzzi, Michael, Bisgaier, Charles, Chen, Y. Eugene, Paulus, Yannis M., Yang, Dongshan
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/PMC9940772/
https://www.ncbi.nlm.nih.gov/pubmed/36795064
http://dx.doi.org/10.1167/tvst.12.2.26

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