Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
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| Description | scientific article |
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author: David N. Cooper Camillo Rosano Stefano Regis Barbara Tappino Nadia Chuzhanova |
| Publication date | November 1, 2009 |
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