Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons

J Inherit Metab Dis. 1996;19(1):93-4. doi: 10.1007/BF01799358.
No abstract available

MeSH terms

  • Exons
  • Genome
  • Humans
  • Iduronate Sulfatase / genetics*
  • Mucopolysaccharidosis II / enzymology
  • Mucopolysaccharidosis II / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational*

Substances

  • Iduronate Sulfatase