• Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Lys4Gln (c.10A>C); ClinVar=VCV000002774; Zygosity=Heterozygous (PubMed=16465621).
  

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=16465621; DOI=10.1086/500849; PMCID=PMC1380288
Mariko Kudo, Michael S. Brem, William M. Canfield;
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. 78:451-463(2006)