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., 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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