Authors:
Esposito, S
Balzano, N
Daniele, A
Villani, GRD
Perkins, K
Weber, B
Hopwood, JJ
Di Natale, P
Citation: S. Esposito et al., Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects, BBA-MOL BAS, 1501(1), 2000, pp. 1-11
Authors:
Tessitore, A
Villani, GRD
Di Domenico, C
Filocamo, M
Gatti, R
Di Natale, P
Citation: A. Tessitore et al., Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients, HUM GENET, 107(6), 2000, pp. 568-576
Authors:
Villani, GRD
Balzano, N
Vitale, D
Saviano, M
Pavone, V
Di Natale, P
Citation: Grd. Villani et al., Maroteaux-Lamy syndrome: five novel mutations and their structural localization, BBA-MOL BAS, 1453(2), 1999, pp. 185-192
Authors:
Di Natale, P
Villani, GRD
Esposito, S
Balzano, V
Filocamo, M
Gatti, R
Citation: P. Di Natale et al., Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele, PRENAT DIAG, 19(10), 1999, pp. 993-994