Article
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.
Human mutation - 1 Nov 2009
Tappino Barbara, Chuzhanova Nadia A, Regis Stefano, Dardis Andrea, Corsolini Fabio, Stroppiano Marina, Tonoli Emmanuel, Beccari Tommaso, Rosano Camillo, Mucha Jan, Blanco Mariana, Szlago Marina, Di Rocco Maja, Cooper David N, Filocamo Mirella
Abstract excerpt
Mutational analysis of the GNPTAB gene was performed in 46 apparently unrelated patients with mucolipidosis IIalpha/beta or IIIalpha/beta, characterized by the mistargeting of multiple lysosomal enzymes as a consequence of a UDP-GlcNAc-1-phosphotransferase defect. The GNPTAB mutational spectrum c...
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