Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells
Thomas, R., Miyoshi, E., Akman, H.O., Storz, S.H.R., Goffena, J., Pytte, J., Miller, D.E., Skourti-Stathaki, K., Crooke, S.T.