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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

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