Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa

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 were cond...

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Detalles Bibliográficos
Autores principales: Wang, Yue, Chen, Xi, Gao, Xiang, Zhao, Andi, Zhao, Chen, Chen, Xuejuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525045/
https://www.ncbi.nlm.nih.gov/pubmed/34666717
http://dx.doi.org/10.1186/s12886-021-02110-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525045/
https://www.ncbi.nlm.nih.gov/pubmed/34666717
http://dx.doi.org/10.1186/s12886-021-02110-2

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