A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease

Hum Mol Genet. 1993 Oct;2(10):1737-8. doi: 10.1093/hmg/2.10.1737.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Fetal Diseases / genetics
  • Gaucher Disease / embryology
  • Gaucher Disease / genetics*
  • Genes*
  • Genetic Testing
  • Glucosylceramidase / genetics*
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Sequence Deletion*

Substances

  • Glucosylceramidase