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Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. It also allows a low level of leaky wild-type splicing, leading to a childhood/adult phenotyp...

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Detalles Bibliográficos
Autores principales:	van der Wal, Erik, Bergsma, Atze J., Pijnenburg, Joon M., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society of Gene & Cell Therapy 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415969/ https://www.ncbi.nlm.nih.gov/pubmed/28624228 http://dx.doi.org/10.1016/j.omtn.2017.03.001

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