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

Persichetti, E., Chuzhanova, N.A. ORCID: 0000-0002-4655-3618, Dardis, A., Tappino, B., Pohl, S., Thomas, N.S.T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A.L., Sibilio, M., Parini, R., Rigoldi, M., Di, R., Parenti, G., Orlacchio, A., Bembi, B. and Cooper, D.N., 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.

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Item Type: Journal article
Publication Title: Human Mutation
Creators: Persichetti, E., Chuzhanova, N.A., Dardis, A., Tappino, B., Pohl, S., Thomas, N.S.T., Rosano, C., Balducci, C., Paciotti, S., Dominissini, S., Montalvo, A.L., Sibilio, M., Parini, R., Rigoldi, M., Di, R., Parenti, G., Orlacchio, A., Bembi, B. and Cooper, D.N.
Date: 2009
Volume: 30
Divisions: Schools > School of Science and Technology
Depositing User: EPrints Services
Date Added: 09 Oct 2015 09:41
Last Modified: 09 Jun 2017 13:08
URI: http://irep.ntu.ac.uk/id/eprint/1115

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