title: Hematologically important mutations: Gaucher disease.
authors.affiliation: The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA. beutler@scripps.edu
authors.forename: Ernest
authors.initials: E
authors.lastname: Beutler
authors.forename: Terri
authors.initials: T
authors.lastname: Gelbart
authors.forename: C Ronald
authors.initials: CR
authors.lastname: Scott
mesh_terms: D005091:Exons; D005776:Gaucher Disease / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D009154:Mutation; D010641:Phenotype