Gaucher disease: report of de novo GBA mutation in a Spanish family

Blood Cells Mol Dis. 2008 May-Jun;40(3):444-5. doi: 10.1016/j.bcmd.2008.01.005. Epub 2008 Mar 3.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Family
  • Female
  • Gaucher Disease / genetics*
  • Glucosylceramidase / deficiency
  • Glucosylceramidase / genetics*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Spain

Substances

  • Glucosylceramidase