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

Tappino, B, Chuzhanova, NA ORCID: https://orcid.org/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 (11).

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Item Type:	Journal article
Publication Title:	Human Mutation
Creators:	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.
Date:	2009
Volume:	30
Number:	11
Identifiers:	Number Type 10.1002/humu.21099 DOI
Divisions:	Schools > School of Science and Technology
Record created by:	EPrints Services
Date Added:	09 Oct 2015 11:14
Last Modified:	02 Nov 2023 11:15
URI:	https://irep.ntu.ac.uk/id/eprint/24698

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