New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease

Hum Mutat. 1995;6(2):186-7. doi: 10.1002/humu.1380060214.
No abstract available

MeSH terms

  • Base Sequence
  • Fabry Disease / genetics*
  • Humans
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • alpha-Galactosidase / genetics*

Substances

  • alpha-Galactosidase