Mutation analysis in 20 patients with Hunter disease

Hum Mutat. 1996;7(1):76-8. doi: 10.1002/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • DNA Mutational Analysis
  • Dosage Compensation, Genetic
  • Exons
  • Female
  • Gene Deletion
  • Genetic Carrier Screening
  • Humans
  • Iduronate Sulfatase / genetics*
  • Male
  • Molecular Sequence Data
  • Mucopolysaccharidosis II / genetics*
  • Mutation*
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • X Chromosome / genetics

Substances

  • Iduronate Sulfatase