DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Kudo M, Brem MS, Canfield WM.
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
Am J Hum Genet 2006;
78 (03) 451-463
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