Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population

Clin Genet. 2012 May;81(5):495-7. doi: 10.1111/j.1399-0004.2011.01757.x. Epub 2011 Dec 28.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Female
  • Gaucher Disease / epidemiology
  • Gaucher Disease / genetics*
  • Gene Frequency*
  • Genotype
  • Glucosylceramidase / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Spain / epidemiology
  • White People / genetics*

Substances

  • Glucosylceramidase