Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II.)

Hum Mutat. 1996;7(2):184-5. doi: 10.1002/humu.1380070204.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Codon, Terminator
  • Exons / genetics
  • Humans
  • Molecular Sequence Data
  • Mucopolysaccharidosis II / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational

Substances

  • Codon, Terminator