Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis

BACKGROUND: Inherited retinal diseases (IRDs) are clinically and genetically heterogenous disorders leading to visual impairment and blindness. Because gene therapy for RPE65-associated IRDs was recently approved, it is necessary to predict the carrier frequency and prevalence for RPE65-associated I...

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Detalles Bibliográficos
Autores principales: Cho, Eun Hye, Park, Jong Eun, Lee, Taeheon, Ha, Kyeongsu, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644481/
https://www.ncbi.nlm.nih.gov/pubmed/36352427
http://dx.doi.org/10.1186/s13023-022-02566-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644481/
https://www.ncbi.nlm.nih.gov/pubmed/36352427
http://dx.doi.org/10.1186/s13023-022-02566-5

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