Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients

Hum Mutat. 1997;10(1):71-5. doi: 10.1002/(SICI)1098-1004(1997)10:1<71::AID-HUMU10>3.0.CO;2-X.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Cells, Cultured
  • DNA Mutational Analysis
  • DNA Primers
  • Electrophoresis, Polyacrylamide Gel
  • Exons / genetics
  • Humans
  • Iduronate Sulfatase / genetics*
  • Italy
  • Mucopolysaccharidosis II / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational

Substances

  • DNA Primers
  • Iduronate Sulfatase

Grants and funding