The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years

Clin Genet. 2001 Nov;60(5):393-4. doi: 10.1034/j.1399-0004.2001.600513.x.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Austria / epidemiology
  • Gene Frequency / genetics*
  • Iduronate Sulfatase / genetics*
  • Iduronidase / deficiency
  • Iduronidase / genetics*
  • Mucopolysaccharidosis I / epidemiology
  • Mucopolysaccharidosis I / ethnology
  • Mucopolysaccharidosis I / genetics*
  • Mucopolysaccharidosis II / epidemiology
  • Mucopolysaccharidosis II / ethnology
  • Mucopolysaccharidosis II / genetics*
  • Mucopolysaccharidosis III / epidemiology
  • Mucopolysaccharidosis III / ethnology
  • Mucopolysaccharidosis III / genetics*
  • Mutation / genetics*
  • Sulfatases / deficiency
  • Sulfatases / genetics*

Substances

  • Sulfatases
  • heparan sulfate sulfatase
  • Iduronate Sulfatase
  • Iduronidase