Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain genetically unexplained following conventional genetic testing, we aimed to obtain a genetic diagnosi...

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Detalles Bibliográficos
Autores principales: Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602293/
https://www.ncbi.nlm.nih.gov/pubmed/34795310
http://dx.doi.org/10.1038/s41525-021-00261-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602293/
https://www.ncbi.nlm.nih.gov/pubmed/34795310
http://dx.doi.org/10.1038/s41525-021-00261-1

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