title: Six new Gaucher disease mutations.
abstract: Six previously undescribed mutations were identified in 6 unrelated Gaucher disease patients: 437C-->T (107Ser-->Leu), 593C-->T (159Pro-->Leu), 604C-->T (163Arg-->Stop), 1138G-->A (341Ala-->Thr), 1214G-->A (366Ser-->Asn), 1294T-->A (393Trp-->Arg). Five patients were compound heterozygotes and 1 patient was a 593T/593T homozygote. Four patients had type I Gaucher disease with mild clinical phenotypes. Two other patients manifested central nervous system involvement (type II and type III).
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, Calif 92037, USA.
authors.forename: A
authors.initials: A
authors.lastname: Demina
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D001483:Base Sequence; D005776:Gaucher Disease / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D001617:beta-Glucosidase / Q000235:genetics*
chemical_list: D001617:beta-Glucosidase