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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Foilsithe in:Mol Ther Nucleic Acids
Main Authors: van der Wal, Erik, Bergsma, Atze J., Pijnenburg, Joon M., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society of Gene & Cell Therapy 2017
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Original Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5415969/
https://ncbi.nlm.nih.gov/pubmed/28624228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.omtn.2017.03.001
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