A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease

Acta Derm Venereol. 2004;84(4):310-1. doi: 10.1080/00015550410024643.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Asian People
  • Chromosomes, Human, Pair 22 / genetics*
  • DNA Mutational Analysis
  • Fabry Disease / diagnosis
  • Fabry Disease / genetics*
  • Gene Deletion
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Taiwan
  • alpha-Galactosidase / genetics*

Substances

  • alpha-Galactosidase