title: The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.
authors.affiliation: Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.
authors.forename: P K
authors.initials: PK
authors.lastname: Mistry
authors.forename: T M
authors.initials: TM
authors.lastname: Cox
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000145:classification / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007223:Infant; D007585:Jews / Q000235:genetics; D008247:Lysosomes / Q000201:enzymology*; D010375:Pedigree; D010641:Phenotype; D011544:Pseudogenes
chemical_list: D005962:Glucosylceramidase