First case of late onset cardiac phenotype Fabry disease due to an AluYb8 insertion in exon 7 of the GLA gene

Eur Heart J Cardiovasc Imaging. 2019 Oct 1;20(10):1182. doi: 10.1093/ehjci/jez083.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Alu Elements / genetics*
  • Contrast Media
  • Exons
  • Fabry Disease / diagnostic imaging*
  • Fabry Disease / genetics*
  • Genetic Testing
  • Humans
  • Male
  • Mutagenesis, Insertional / genetics*
  • Pedigree
  • Phenotype
  • alpha-Galactosidase / genetics*

Substances

  • Contrast Media
  • alpha-Galactosidase