either through direct mutation of the splice-site signals or through disruption of other components of the splicing pathway (Wang & Cooper 2007). Therefore, understanding what information in pre ...

It will be useful to determine if other deletions exist in families in which Δ9 has been confirmed through RT–PCR or immunoblot experiments but in which splice-site mutations have not been found 3.

As the first-ever IND for a Protein Splicing gene therapy, it is a huge step forward to demonstrate the potential of this new therapeutic modality to address diseases caused by mutations in large ...