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

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Tappino, B., Chuzhanova, N.A. 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, 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.

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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
Divisions:	Schools > School of Science and Technology
Record created by:	EPrints Services
Date Added:	09 Oct 2015 11:14
Last Modified:	09 Jun 2017 13:53
URI:	http://irep.ntu.ac.uk/id/eprint/24698