Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

Stargardt disease is an autosomal recessively inherited retinal disorder commonly caused by pathogenic variants in the ABCA4 gene encoding the ATP-binding cassette subfamily A member 4 (ABCA4) protein. Several deep-intronic variants in ABCA4 have been classified as disease causing. By strengthening...

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Detalles Bibliográficos
Autores principales: De Angeli, Pietro, Reuter, Peggy, Hauser, Stefan, Schöls, Ludger, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9375153/
https://www.ncbi.nlm.nih.gov/pubmed/35991315
http://dx.doi.org/10.1016/j.omtn.2022.07.023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9375153/
https://www.ncbi.nlm.nih.gov/pubmed/35991315
http://dx.doi.org/10.1016/j.omtn.2022.07.023

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