Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. [electronic resource]
- Journal of medical genetics Apr 2004
- e52 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2003.015222 doi
Adolescent Adult Child Child, Preschool DNA Mutational Analysis Exons Genome, Human Humans Introns Mucolipidoses--diagnosis Mutation Protein Subunits--genetics Transferases (Other Substituted Phosphate Groups)--genetics