The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme

J Med Genet. 1993 Nov;30(11):889-94. doi: 10.1136/jmg.30.11.889.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Adult
  • DNA Mutational Analysis
  • Gaucher Disease / classification
  • Gaucher Disease / diagnosis
  • Gaucher Disease / enzymology
  • Gaucher Disease / epidemiology
  • Gaucher Disease / ethnology
  • Gaucher Disease / genetics*
  • Genotype
  • Glucosylceramidase / genetics*
  • Humans
  • Infant
  • Jews / genetics
  • Lysosomes / enzymology*
  • Pedigree
  • Phenotype
  • Pseudogenes

Substances

  • Glucosylceramidase