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

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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
Record created by:	EPrints Services
Date Added:	09 Oct 2015 09:41
Last Modified:	09 Jun 2017 13:08
URI:	https://irep.ntu.ac.uk/id/eprint/1115