This program provides descriptive information on deletions and duplications of DMD exons including size, protein domain involvement, whether in frame or out of frame, and theoretical amenability to nonsense read-through or exon skipping interventions. To use, simply input appropriate values in the three yellow boxes. Please read the usage notes, as these provide detail on the assumptions and limitations of this program, and also provide important cautionary information on deletions and duplications detected by multiplex ligation-dependent probe amplification (MLPA).
| cnv_framer_for_dmd_usage_notes.pdf |