title: Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene.
authors.affiliation: Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
authors.forename: J S
authors.initials: JS
authors.lastname: Harvey
authors.forename: W F
authors.initials: WF
authors.lastname: Carey
authors.forename: P V
authors.initials: PV
authors.lastname: Nelson
authors.forename: C P
authors.initials: CP
authors.lastname: Morris
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D003062:Codon; D005091:Exons; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D017354:Point Mutation
chemical_list: D003062:Codon; D009838:Oligodeoxyribonucleotides; D002553:Cerebroside-Sulfatase