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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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Detalhes bibliográficos
Publicado no:Mol Med Rep
Main Authors: Zhu, Xiong, Li, Xiao, Tian, Wanli, Yang, Yeming, Sun, Kuanxiang, Li, Shuzhen, Zhu, Xianjun
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7248525/
https://ncbi.nlm.nih.gov/pubmed/32319668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2020.11087
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