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

Raas-Rothschild, A

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