Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness. Although next generation sequencing (NGS) has revolutionized the molecular diagnosis of these diseases, the...

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Detalles Bibliográficos
Autores principales: Rodriguez-Muñoz, Ana, Liquori, Alessandro, García-Bohorquez, Belén, Jaijo, Teresa, Aller, Elena, Millán, José M., García-García, Gema
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8742059/
https://www.ncbi.nlm.nih.gov/pubmed/34996991
http://dx.doi.org/10.1038/s41598-021-03925-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8742059/
https://www.ncbi.nlm.nih.gov/pubmed/34996991
http://dx.doi.org/10.1038/s41598-021-03925-1

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