title: Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
authors.affiliation: Department de Genètica, Universitat de Barcelona, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Cormand
authors.forename: L
authors.initials: L
authors.lastname: Vilageliu
authors.forename: S
authors.initials: S
authors.lastname: Balcells
authors.forename: R
authors.initials: R
authors.lastname: Gonzàlez-Duarte
authors.forename: A
authors.initials: A
authors.lastname: Chabás
authors.forename: D
authors.initials: D
authors.lastname: Grinberg
mesh_terms: D001483:Base Sequence; D002478:Cells, Cultured; D017931:DNA Primers; D005091:Exons; D005776:Gaucher Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D005962:Glucosylceramidase / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017433:Protein Structure, Secondary; D013030:Spain
chemical_list: D017931:DNA Primers; D005962:Glucosylceramidase