title: Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
authors.affiliation: Department of Human Genetics, Hadassah University Medical Center, Jerusalem, Israel. annick@md.huji.ac.il
authors.forename: A
authors.initials: A
authors.lastname: Raas-Rothschild
authors.forename: R
authors.initials: R
authors.lastname: Bargal
authors.forename: O
authors.initials: O
authors.lastname: Goldman
authors.forename: E
authors.initials: E
authors.lastname: Ben-Asher
authors.forename: J E M
authors.initials: JE
authors.lastname: Groener
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: E
authors.initials: E
authors.lastname: Stemmer
authors.forename: Z
authors.initials: Z
authors.lastname: Ben-Neriah
authors.forename: H
authors.initials: H
authors.lastname: Flusser
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: M
authors.initials: M
authors.lastname: Penttinen
authors.forename: T
authors.initials: T
authors.lastname: Olender
authors.forename: A J J T
authors.initials: AJ
authors.lastname: Rein
authors.forename: G
authors.initials: G
authors.lastname: Bach
authors.forename: M
authors.initials: M
authors.lastname: Zeigler
mesh_terms: 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*
chemical_list: D021122:Protein Subunits; D017855:Transferases (Other Substituted Phosphate Groups); C030012:UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase