Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Autor:	Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, Andrea L., Lodish, Maya B., Stratakis, Constantine A., Maric, Irina, Rosenzweig, Sergio D., Baker, Eva H., Ferreira, Carlos R., Danylchuk, Noelle R., Kahler, Stephen, Garnica, Adolfo D., Bradley Schaefer, G., Boerkoel, Cornelius F., Gahl, William A., Wolfe, Lynne A.
Zdroj:	In Molecular Genetics and Metabolism June-July 2015 115(2-3):128-140
Databáze:	ScienceDirect
Externí odkaz:	Zobrazit plný text záznamu Full Text from ScienceDirect