Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss

Usherin is the most common causative protein associated with autosomal recessive retinitis pigmentosa (RP) and Usher syndrome (USH), which are characterized by retinal degeneration alone and in combination with hearing loss, respectively. Usherin is essential for photoreceptor survival and hair cell...

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Detalles Bibliográficos
Autores principales: Yu, Dongmei, Zou, Junhuang, Chen, Qian, Zhu, Tian, Sui, Ruifang, Yang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317166/
https://www.ncbi.nlm.nih.gov/pubmed/32637036
http://dx.doi.org/10.1016/j.csbj.2020.05.025

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