Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

J Med Genet. 2003 Aug;40(8):e103. doi: 10.1136/jmg.40.8.e103.
No abstract available

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Dosage Compensation, Genetic*
  • Fabry Disease / diagnosis
  • Fabry Disease / genetics*
  • Female
  • Gene Silencing*
  • Genetic Carrier Screening*
  • Humans
  • Male
  • Pedigree
  • alpha-Galactosidase / genetics

Substances

  • alpha-Galactosidase