Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping

PURPOSE: The widespread consensus is that genotyping is essential for patients with inherited retinal disease (IRD). Given the numerous ongoing gene therapy clinical trials for IRDs, identifying the pathogenic mutation in these patients has potential important therapeutic implications. In this study...

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Detalles Bibliográficos
Autores principales: Gupta, Priya R., Kheir, Wajiha, Peng, Bo, Duan, Jie, Chiang, John P-W., Iannaccone, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9514548/
https://www.ncbi.nlm.nih.gov/pubmed/36284670

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9514548/
https://www.ncbi.nlm.nih.gov/pubmed/36284670

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