Fabry or not Fabry--a question of ascertainment

Eur J Hum Genet. 2011 Nov;19(11):1111. doi: 10.1038/ejhg.2011.87. Epub 2011 May 18.
No abstract available

Publication types

  • Letter

MeSH terms

  • Fabry Disease / diagnosis*
  • Fabry Disease / genetics
  • Heterozygote
  • Humans
  • Mutation, Missense
  • alpha-Galactosidase / genetics

Substances

  • alpha-Galactosidase