Further cases of "neighbor" mutations in mucopolysaccharidosis type II

Am J Med Genet A. 2006 Aug 1;140(15):1684-6. doi: 10.1002/ajmg.a.31317.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Codon
  • Exons
  • Humans
  • Iduronate Sulfatase / genetics
  • Male
  • Mucopolysaccharidosis II / diagnosis
  • Mucopolysaccharidosis II / genetics*
  • Mutation*
  • Phenotype

Substances

  • Codon
  • Iduronate Sulfatase