title: Hematologically important mutations: Gaucher disease.
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA. beutler@scripps.edu
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: T
authors.initials: T
authors.lastname: Gelbart
mesh_terms: D019943:Amino Acid Substitution; D005776:Gaucher Disease / Q000097:blood / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006403:Hematologic Tests; D006801:Humans; D009154:Mutation; D010641:Phenotype
chemical_list: D005962:Glucosylceramidase