Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease

Hum Mutat. 1995;5(3):277-8. doi: 10.1002/humu.1380050316.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Denmark
  • Fabry Disease / genetics*
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA
  • alpha-Galactosidase / genetics*

Substances

  • alpha-Galactosidase