Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

PAX6 haploinsufficiency causes aniridia, a congenital eye disorder that involves the iris, and foveal hypoplasia. Comprehensive screening of the PAX6 locus, including the non-coding regions, by next-generation sequencing revealed four deep-intronic variants with potential effects on pre-RNA splicing...

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Detalles Bibliográficos
Autores principales: Tamayo, Alejandra, Núñez-Moreno, Gonzalo, Ruiz, Carolina, Plaisancie, Julie, Damian, Alejandra, Moya, Jennifer, Chassaing, Nicolas, Calvas, Patrick, Ayuso, Carmen, Minguez, Pablo, Corton, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863980/
https://www.ncbi.nlm.nih.gov/pubmed/36675087
http://dx.doi.org/10.3390/ijms24021562

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863980/
https://www.ncbi.nlm.nih.gov/pubmed/36675087
http://dx.doi.org/10.3390/ijms24021562

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