title: A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient.
authors.affiliation: Department of Biology, University of Victoria, British Columbia, Canada.
authors.forename: F Y
authors.initials: FY
authors.lastname: Choy
authors.forename: C
authors.initials: C
authors.lastname: Wei
authors.forename: D A
authors.initials: DA
authors.lastname: Applegarth
authors.forename: S L
authors.initials: SL
authors.lastname: Yong
mesh_terms: D001483:Base Sequence; D002648:Child; D005091:Exons; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000208:ethnology / Q000235:genetics*; D005796:Genes; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D044465:White People / Q000235:genetics
chemical_list: D005962:Glucosylceramidase