Fig. 5
From: The potential of antisense oligonucleotide therapies for inherited childhood lung diseases
Splice mutation in ABCA3 causes partial intron 25 inclusion in the mRNA resulting in DSPM. a Normal splicing of ABCA3 exons 24–26. b Aberrant splicing of intron 25 caused by point mutation, IVS-98T, introduces a stop codon after 77 additional amino acids after exon 25, resulting in a truncated protein. AO-mediated splice correction could potentially reduce the disease severity