Does anyone know where to find a list of the 1800 diseases affected my these mutations??
I have four suggestions.
The quickest is enter nonsense mutations and inherited diseases into PubMed. Find a local library with a subscription to Nature. Buy "PTC124 targets genetic disorders caused by nonsense mutations," online from Nature. Contact Jane Baj, Associate Director, Corporate Director at PTC, Tel. 908-222-7000x167
jbaj@ptcbio.com