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Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next-generation sequencing

Retinitis pigmentosa (RP) is a group of inheritable blindness retinal diseases characterized by the death of photoreceptor cells and a gradual loss of peripheral vision. Mutations in Usher syndrome type 2 (USH2A) have been reported in RP with or without hearing loss. The present study aimed to ident...

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Detalles Bibliográficos
Autores principales: Zhu, Xiong, Li, Xiao, Tian, Wanli, Yang, Yeming, Sun, Kuanxiang, Li, Shuzhen, Zhu, Xianjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248525/
https://www.ncbi.nlm.nih.gov/pubmed/32319668
http://dx.doi.org/10.3892/mmr.2020.11087