Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote

Hum Mutat. 1998:Suppl 1:S213-6. doi: 10.1002/humu.1380110169.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Animals
  • COS Cells
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Fabry Disease / enzymology
  • Fabry Disease / genetics*
  • Fabry Disease / pathology
  • Gene Expression Regulation, Enzymologic
  • Heterozygote
  • Humans
  • Male
  • Methionine
  • Mutation, Missense
  • Point Mutation
  • Valine
  • alpha-Galactosidase / genetics*
  • alpha-Galactosidase / metabolism

Substances

  • DNA
  • Methionine
  • alpha-Galactosidase
  • Valine