Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1

Am J Hematol. 2013 Oct;88(10):922-3. doi: 10.1002/ajh.23537. Epub 2013 Aug 1.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bone Marrow / enzymology
  • Bone Marrow / pathology
  • Gaucher Disease / enzymology
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Glucosylceramidase / genetics*
  • Glucosylceramidase / metabolism
  • Humans
  • Male
  • Middle Aged
  • Point Mutation*

Substances

  • Glucosylceramidase