Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations

Clin Genet. 2001 Oct;60(4):316-8. doi: 10.1034/j.1399-0004.2001.600412.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Base Sequence
  • Blotting, Southern
  • Child
  • DNA Mutational Analysis
  • Female
  • Humans
  • Iduronate Sulfatase / genetics*
  • Male
  • Molecular Sequence Data
  • Mucopolysaccharidosis II / enzymology
  • Mucopolysaccharidosis II / genetics*
  • Mutation / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Portugal
  • RNA Splice Sites / genetics

Substances

  • RNA Splice Sites
  • Iduronate Sulfatase

Associated data

  • GENBANK/L35485
  • OMIM/309900