title: Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.
abstract: Plasmid clones of three independent genomic fragments of the gene for human N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4) were utilized in a fluorescence in situ suppression hybridization study to assign the locus to chromosome 16q24. Enzyme assay for GALNS in a patient with del(16)(q22.1) confirmed this finding.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: Y
authors.initials: Y
authors.lastname: Nakashima
authors.forename: T
authors.initials: T
authors.lastname: Hori
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: M
authors.initials: M
authors.lastname: Masue
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D015139:Blotting, Southern; D002811:Chondroitinsulfatases / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D003001:Cloning, Molecular; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D010957:Plasmids
chemical_list: D002811:Chondroitinsulfatases