1. Protein misfolding and degradation in genetic disease;Bross;Human Mutation,1999
2. Nonsense-mediated mRNA decay in health and disease;Frischmeyer;Human Molecular Genetics,1999
3. Human Gene Mutation Database, http://www.uwcm.ac.uk/uwcm/mg/hgmd0.html
4. Locus Specific Databasehttp://ariel.ucs.unimelb.edu.au:80/∼cotton/mdi.htm
5. Online Mendelian Inheritance in Man http://www3.ncbi.nlm.nih.gov/Omim