The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.
Kroepfl
T
T
Milos
I
I
Paul
K
K
Plecko
B
B
Paschke
E
E
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*
D013429:Sulfatases; C021346:heparan sulfate sulfatase; D007066:Iduronate Sulfatase; D007068:Iduronidase