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

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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Bibliographic Details
Main Authors: Erik van der Wal (Author), Atze J. Bergsma (Author), Joon M. Pijnenburg (Author), Ans T. van der Ploeg (Author), W.W.M. Pim Pijnappel (Author)
Format: Book
Published: Elsevier, 2017-06-01T00:00:00Z.
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