Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

Hum Mutat. 1996;8(3):280-1. doi: 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine
  • Cytosine
  • Exons
  • Gaucher Disease / enzymology*
  • Gaucher Disease / epidemiology
  • Gaucher Disease / genetics*
  • Glucosylceramidase / genetics*
  • Humans
  • Point Mutation*
  • Portugal / epidemiology
  • Prevalence

Substances

  • Cytosine
  • Glucosylceramidase
  • Adenine