title: The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.
authors.forename: T
authors.initials: T
authors.lastname: Kroepfl
authors.forename: I
authors.initials: I
authors.lastname: Milos
authors.forename: K
authors.initials: K
authors.lastname: Paul
authors.forename: B
authors.initials: B
authors.lastname: Plecko
authors.forename: E
authors.initials: E
authors.lastname: Paschke
mesh_terms: D001317:Austria / Q000453:epidemiology; D005787:Gene Frequency / Q000235:genetics*; D007066:Iduronate Sulfatase / Q000235:genetics*; D007068:Iduronidase / Q000172:deficiency / Q000235:genetics*; D008059:Mucopolysaccharidosis I / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D016532:Mucopolysaccharidosis II / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D009084:Mucopolysaccharidosis III / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D013429:Sulfatases / Q000172:deficiency / Q000235:genetics*
chemical_list: D013429:Sulfatases; C021346:heparan sulfate sulfatase; D007066:Iduronate Sulfatase; D007068:Iduronidase