Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease - van der Wal, Erik; Bergsma, Atze J.; Pijnenburg, Joon M.; van der Ploeg, Ans T.; Pijnappel, W.W.M. Pim (Molecular therapy. Nucleic acids, 2017)
Keywords: acid α-glucosidase; Antisense oligonucleotides; Children; Clinical trials; Enzymatic activity; Enzymes; exon inclusion; Fibroblasts; GAA; IVS1; lysosomal storage disease; lysosomal storage disorder; metabolic disorder; Mutation; Original; Phenotypes; Pompe disease; pre-mRNA splicing; Proteins; Regulation; RNA polymerase; skeletal muscle; snRNA; Splicing; Statistical analysis; U7 snRNA screen; α-Glucosidase; Pompe disease; acid α-glucosidase; lysosomal storage disease; GAA; antisense oligonucleotides; metabolic disorder; IVS1; exon inclusion; skeletal muscle; U7 snRNA screen; lysosomal storage disorder; pre-mRNA splicing