title: Gaucher's disease--an exemplary monogenic disorder.
authors.forename: T M
authors.initials: TM
authors.lastname: Cox
mesh_terms: D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005776:Gaucher Disease / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D005808:Genes, Recessive; D005962:Glucosylceramidase / Q000502:physiology; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics
chemical_list: D005962:Glucosylceramidase