Items where Author is "Tappino, B"

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Journal article

Persichetti, E, Chuzhanova, NA ORCID: 0000-0002-4655-3618, Dardis, A, Tappino, B, Pohl, S, Thomas, NST, Rosano, C, Balducci, C, Paciotti, S, Dominissini, S, Montalvo, AL, Sibilio, M, Parini, R, Rigoldi, M, Di, Rocco, Parenti, G, Orlacchio, A, Bembi, B and Cooper, DN, 2009. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Human Mutation, 30, pp. 978-984.

Tappino, B, Chuzhanova, NA ORCID: 0000-0002-4655-3618, Regis, S, Dardis, A, Corsolini, F, Stroppiano, M, Tonoli, E, Rosano, C, Mucha, J, Blanco, M, Beccari, T, Szlago, M, Di, Rocco, Cooper, DN 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.

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