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Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene

✍ Scribed by Cury, G.K.; Matte, U.; Artigalás, O.; Alegra, T.; Velho, R.V.; Sperb, F.; Burin, M.G.; Ribeiro, E.M.; Lourenço, C.M.; Kim, C.A.; Valadares, E.R.; Galera, M.F.; Acosta, A.X.; Schwartz, I.V.D.


Book ID
120507558
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
725 KB
Volume
524
Category
Article
ISSN
0378-1119

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Mutational analysis of the GNPTAB gene was performed in 46 apparently unrelated patients with mucolipidosis IIα/β or IIIα/β, characterized by the mistargeting of multiple lysosomal enzymes as a consequence of a UDP-GlcNAc-1-phosphotransferase defect. The GNPTAB mutational spectrum comprised 25 disti