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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2020
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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 |