PMID 16116615 2005 Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
PMID 21416587 2011 A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
PMID 28095893 2017 Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
rs137852897 in
GNPTAB gene and
Pseudo-Hurler Polydystrophy
PMID 21416587 2011 A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
PMID 16116615 2005 Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
PMID 28095893 2017 Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.