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 ...

Two different mutations reported to cause this truncation. ‡ Results from splice site mutations (intron 7). § Reported in abstract only. Data derived from [49-65].

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.