Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
Raas-Rothschild
A
A
Department of Human Genetics, Hadassah University Medical Center, Jerusalem, Israel. annick@md.huji.ac.il
Bargal
R
R
Goldman
O
O
Ben-Asher
E
E
Groener
J E M
JE
Toutain
A
A
Stemmer
E
E
Ben-Neriah
Z
Z
Flusser
H
H
Beemer
F A
FA
Penttinen
M
M
Olender
T
T
Rein
A J J T
AJ
Bach
G
G
Zeigler
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D015894:Genome, Human; D006801:Humans; D007438:Introns; D009081:Mucolipidoses / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D021122:Protein Subunits / Q000235:genetics; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics*
D021122:Protein Subunits; D017855:Transferases (Other Substituted Phosphate Groups); C030012:UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase