SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

Autor: Ciara, E., Popowska, E., Piekutowska-Abramczuk, D., Jurkiewicz, D., Borucka-Mankiewicz, M., Kowalski, Paweł, Goryluk-Kozakiewicz, B., Nowaczyk, M.J.M., Krajewska-Walasek, M.
Zdroj: In European Journal of Medical Genetics 2006 49(6):499-504
Databáze: ScienceDirect