From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

While 9% of human pathogenic variants have an established effect on pre-mRNA splicing, it is suspected that an additional 20% of otherwise classified variants also affect splicing. Aberrant splicing includes disruption of splice sites or regulatory elements, or creation or strengthening of cryptic s...

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Detalles Bibliográficos
Autores principales: Bergsma, Atze J, in ‘t Groen, Stijn LM, Verheijen, Frans W, van der Ploeg, Ans T, Pijnappel, WWM Pim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056997/
https://www.ncbi.nlm.nih.gov/pubmed/27623443
http://dx.doi.org/10.1038/mtna.2016.75

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056997/
https://www.ncbi.nlm.nih.gov/pubmed/27623443
http://dx.doi.org/10.1038/mtna.2016.75

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