1. 1) Hamosh, A. Online Mendelian Inheritance in Man (OMIM). An Online Catalog of Human Genes and Genetic Disorders. Baltimore: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. Available from: http://www.omim.org/.
2. 2) Thomas, P.J., Qu, B.H. and Pedersen, P.L. (1995) Defective protein folding as a basis of human disease. Trends Biochem. Sci. 20, 456–459.
3. 3) Gregersen, N., Bross, P., Andrese, B.S., Pedersen, C.B., Corydon, T.J. and Bolund, L. (2001) The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders. J. Inherit. Metab. Dis. 24, 189–212.
4. 4) Cohen, F.E. and Kelly, J.W. (2003) Therapeutic approaches to protein-misfolding diseases. Nature 426, 905–909.
5. 5) Bernier, V., Lagace, M., Bichet, D.G. and Bouvier, M. (2004) Pharmacological chaperones: potential treatment for conformational diseases. Trends Endocrinol. Metab. 15, 222–228.