Items where Author is "Mucha, J"

Journal article

TAPPINO, B., CHUZHANOVA, N.A., REGIS, S., DARDIS, A., CORSOLINI, F., STROPPIANO, M., TONOLI, E., ROSANO, C., MUCHA, J., BLANCO, M., BECCARI, T., SZLAGO, M., DI, R., COOPER, D.N. and FILOCAMO, M., 2009. Molecular Characterization of 22 Novel UDP-N-acetylglucosamine-1-phosphate transferase á- and â-subunit (GNPTAB) Gene Mutations Causing Mucolipidosis Types IIá/â and IIIá/â in 46 Patients. Human Mutation, 30 (11).