title: Gene symbol: ARSA. Disease: metachromatic leukodystrophy.
authors.affiliation: Institute of Inherited Metabolic Diseases, Charles University, Prague, Czech Republic. lindaberna@yahoo.com
authors.forename: L
authors.initials: L
authors.lastname: Berna
authors.forename: V
authors.initials: V
authors.lastname: Gieselmann
authors.forename: H
authors.initials: H
authors.lastname: Poupetova
authors.forename: M
authors.initials: M
authors.lastname: Hrebicek
authors.forename: M
authors.initials: M
authors.lastname: Elleder
authors.forename: J
authors.initials: J
authors.lastname: Ledvinova
mesh_terms: D019943:Amino Acid Substitution; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D020125:Mutation, Missense
chemical_list: D018389:Codon, Nonsense; D002553:Cerebroside-Sulfatase