TY  - GEN
AU  - Raas-Rothschild,A
AU  - Bargal,R
AU  - Goldman,O
AU  - Ben-Asher,E
AU  - Groener,J E M
AU  - Toutain,A
AU  - Stemmer,E
AU  - Ben-Neriah,Z
AU  - Flusser,H
AU  - Beemer,F A
AU  - Penttinen,M
AU  - Olender,T
AU  - Rein,A J J T
AU  - Bach,G
AU  - Zeigler,M
TI  - Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
SN  - 1468-6244
PY  - 2004///0507
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Genome, Human
KW  - Humans
KW  - Introns
KW  - Mucolipidoses
KW  - diagnosis
KW  - Mutation
KW  - Protein Subunits
KW  - genetics
KW  - Transferases (Other Substituted Phosphate Groups)
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2003.015222
ER  -