Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)

Hum Mutat. 1995;5(1):97-100. doi: 10.1002/humu.1380050114.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • DNA, Complementary / genetics
  • Genotype
  • Humans
  • Iduronate Sulfatase / genetics*
  • Male
  • Mucopolysaccharidosis II / enzymology*
  • Mucopolysaccharidosis II / genetics*
  • Mutation*
  • Phenotype
  • Point Mutation
  • Poland
  • Polymerase Chain Reaction
  • Sequence Deletion

Substances

  • DNA, Complementary
  • Iduronate Sulfatase