DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.

Autor: Correa-Cerro, L. S., Wassif, C. A., Waye, J. S., Krakowiak, P. A., Cozma, D., Dobson, N. R., Levin, S. W., Anadiotis, G., Steiner, R. D., Krajewska-Walasek, M., Nowaczyk, M. J. M., Porter, F. D.
Předmět:
Zdroj: Journal of Medical Genetics; Apr2005, Vol. 42 Issue 4, p350-357, 8p
Abstrakt: Examines the DHCR7 nonsense mutations and mRNA nonsense mediated decay (NMD) in Smith-Lemli-Optiz syndrome. Testing of the ability of aminoglycoside antibiotics to suppress NMD; Factor affecting the high basal level of DHCR7 activity in the cell line.
Databáze: Complementary Index