Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa
Abstract Background Rhodopsin (RHO) is the most well-known genetic cause of autosomal dominant retinitis pigmentosa (adRP). This study aimed to investigate the genetic cause of a large Chinese adRP family and assess the pathogenicity of the detected RHO mutant. Methods Routine ocular examinations we...
| Váldodahkkit: | , , , , , |
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| Materiálatiipa: | Artihkal |
| Giella: | English |
| Almmustuhtton: |
BMC
2021-10-01
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| Ráidu: | BMC Ophthalmology |
| Fáttát: | |
| Liŋkkat: | https://doi.org/10.1186/s12886-021-02110-2 |