Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

Por Vuillaumier-Barro..., S., Hetet, G., Barnier, A., Dupre, T., Cuer, M., de Lonlay, P., Cormier-Daire, V., Durand, G., Grandchamp, B., Seta, N.
Publicado em 2000