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, Michael S. Brem|The American Journal of Human Genetics|2006

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