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

J Med Genet. 2004 Apr;41(4):e52. doi: 10.1136/jmg.2003.015222.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Exons
  • Genome, Human
  • Humans
  • Introns
  • Mucolipidoses / diagnosis
  • Mucolipidoses / genetics*
  • Mucolipidoses / pathology
  • Mutation*
  • Protein Subunits / genetics
  • Transferases (Other Substituted Phosphate Groups) / genetics*

Substances

  • Protein Subunits
  • Transferases (Other Substituted Phosphate Groups)
  • UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase