Condition: Mucolipidoses


rs200646278 in GNPTAB gene and Mucolipidoses PMID 21549105 2011 Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

PMID 23773965 2013 Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

PMID 23227064 2012 A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.

PMID 24798265 2015 Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

PMID 16465621 2006 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.

rs35576380 in GNPTAB;CHPT1 gene and Mucolipidoses PMID 16465621 2006 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.

rs104886461 in LOC105372261;MCOLN1 gene and Mucolipidoses PMID 16645217 2006 Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.

PMID 10973263 2000 Identification of the gene causing mucolipidosis type IV.

PMID 19815695 2009 Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 23555759 2013 High-throughput carrier screening using TaqMan allelic discrimination.