title: Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
authors.affiliation: International Centre for Genetic Engineering and Biotechnology-UNIDO, Trieste, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Tuteja
authors.forename: N
authors.initials: N
authors.lastname: Tuteja
authors.forename: F
authors.initials: F
authors.lastname: Lilliu
authors.forename: B
authors.initials: B
authors.lastname: Bembi
authors.forename: R
authors.initials: R
authors.lastname: Galanello
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: F E
authors.initials: FE
authors.lastname: Baralle
mesh_terms: D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons / Q000235:genetics*; D005776:Gaucher Disease / Q000201:enzymology*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D015252:Deoxyribonucleases, Type II Site-Specific; C018492:GCCNNNNNGGC-specific type II deoxyribonucleases; D005962:Glucosylceramidase