They give access to various levels of analysis to evaluate the number of patients elligible for a specific exon-skipping. Predictions are made without consideration for technical feasability (multi-exon skipping is much more difficult to induce than single exon-skipping) and take into account only genotypic and phenotypic data.
This function evaluates the number of large rearrangements that can be theoretically rescued by skipping of one, two and/or three exons. For each situation, are also indicated if the exon(s) to skip is(are) located on the 5',3' or possibly on both sides of the deletion.
This function displays the frequency and extend of the various deletions and duplications of the DMD gene.
This option displays the impact of all possible large deletions (one or more exons) on the reading frame.
They give access to the list of all patients with a nonsense mutation that can be eligible for the nonsense readthrough therapeutic approach.
This function displays the list of patients with a substitution that results in the creation of a premature TGA stop codon.
This function displays the list of patients with a substitution that results in the creation of a premature TAG stop codon.
This function displays the list of patients with a substitution that results in the creation of a premature TAA stop codon.