Knowing the DMD gene mutation is not enough. An additional step is required to understand exon skipping. To explore exon skipping the information supplied from a genetic test may be applied to the map of the dystrophin gene. If skipping an exon next to the missing sequence will restore the reading frame, the mutation may be considered amenable to exon skipping. In rare cases restoration of the reading frame may result in a stop codon.
This App is for educational purposes and is not intended or validated as a diagnostic tool.
- Exon Map Explorer
- Exon Map Explorer Tutorial
- Reviewing DMD Genetic Reports
- Genetic Testing Resources