Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations

Clin Genet. 2004 Dec;66(6):575-6. doi: 10.1111/j.1399-0004.2004.00374.x.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Humans
  • Iduronidase / deficiency
  • Iduronidase / genetics*
  • Korea
  • Mucopolysaccharidosis I / genetics*
  • Mutation
  • Pedigree

Substances

  • Iduronidase