Condition: Mucolipidosis III Gamma


rs1260510628 in GNPTG gene and Mucolipidosis III Gamma PMID 24316125 2014 Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.

PMID 15532026 2004 A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.

PMID 15060128 2004 Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

PMID 10712439 2000 Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

PMID 26108976 2015 Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

PMID 19370764 2009 Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

PMID 27038293 2016 Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.

PMID 25182519 2014 Whole exome sequence analysis of Peters anomaly.

PMID 27243974 2016 Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

PMID 23430803 2013 Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

PMID 27896079 2014 A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.

PMID 26935170 2016 Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.