Novel functional mutations of the galactosidase alpha (GLA) gene in Fabry disease

QJM. 2024 Aug 1;117(8):551. doi: 10.1093/qjmed/hcae151.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Fabry Disease* / genetics
  • Female
  • Humans
  • Male
  • Mutation*
  • alpha-Galactosidase* / genetics

Substances

  • alpha-Galactosidase
  • GLA protein, human