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

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

Abstract 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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer-Wigman, Jordi Corominas, Galuh D. N. Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma S. Duignan, Paul F. Kenna, Frans P. M. Cremers, G. Jane Farrar, Susanne Roosing
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/134ff20611604419a17d57355443d530
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Internet

https://doaj.org/article/134ff20611604419a17d57355443d530

Ejemplares similares