Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease

Hum Mutat. 2001 Apr;17(4):353. doi: 10.1002/humu.41.
No abstract available

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Fabry Disease / enzymology
  • Fabry Disease / genetics*
  • Genetic Linkage / genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • White People / genetics
  • X Chromosome / genetics
  • alpha-Galactosidase / genetics*

Substances

  • alpha-Galactosidase

Associated data

  • GENBANK/X14448