Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site

Hum Genet. 1994 Sep;94(3):314-5. doi: 10.1007/BF00208292.
No abstract available

MeSH terms

  • Deoxyribonucleases, Type II Site-Specific
  • Exons / genetics*
  • Gaucher Disease / enzymology*
  • Glucosylceramidase / genetics*
  • Humans
  • Mutation*
  • Polymerase Chain Reaction

Substances

  • Deoxyribonucleases, Type II Site-Specific
  • GCCNNNNNGGC-specific type II deoxyribonucleases
  • Glucosylceramidase