Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase α/β–Subunits Precursor Gene

Mariko Kudo, William M. Canfield(Winthrop-University Hospital), Michael S. Brem
The American Journal of Human Genetics
February 3, 2006
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