Clinical utility gene card for: Fabry disease

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.178. Epub 2011 Sep 21.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fabry Disease / diagnosis
  • Fabry Disease / genetics*
  • Genetic Testing / methods
  • Humans
  • Mutation
  • Sensitivity and Specificity
  • alpha-Galactosidase / genetics*

Substances

  • alpha-Galactosidase