A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH)

Hum Mutat. 1993;2(1):71-3. doi: 10.1002/humu.1380020113.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • DNA
  • Female
  • Humans
  • Iduronidase / genetics*
  • Jews / genetics*
  • Libya
  • Male
  • Molecular Sequence Data
  • Mucopolysaccharidosis I / genetics*
  • Mutagenesis, Insertional
  • Mutation*
  • Sequence Deletion

Substances

  • DNA
  • Iduronidase