Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome

Hum Mutat. 1995;5(3):272-4. doi: 10.1002/humu.1380050314.
No abstract available

MeSH terms

  • Base Sequence
  • Child
  • Child, Preschool
  • Exons
  • Female
  • Humans
  • Iduronate Sulfatase / genetics*
  • Male
  • Molecular Sequence Data
  • Mucopolysaccharidosis II / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • Pregnancy
  • Restriction Mapping
  • Sequence Analysis, DNA

Substances

  • Iduronate Sulfatase