Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis

Autor: Pittis, M.G., Montalvo, A.L.E., Heikinheimo, P., Sbaragli, M., Balducci, C., Persichetti, E., Van Maldergem, L., Filocamo, M., Bembi, B., Beccari, T.
Zdroj: In Clinica Chimica Acta 2007 375(1):136-139
Databáze: ScienceDirect