title: Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient.
authors.forename: F Y
authors.initials: FY
authors.lastname: Choy
authors.forename: M L
authors.initials: ML
authors.lastname: Humphries
authors.forename: Y
authors.initials: Y
authors.lastname: Ben-Yoseph
mesh_terms: D001224:Aspartic Acid / Q000235:genetics; D005260:Female; D005602:France; D005776:Gaucher Disease / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007223:Infant; D007494:Ireland; D008239:Lysine / Q000235:genetics; D017354:Point Mutation; D011392:Proline / Q000235:genetics; D014443:Tyrosine / Q000235:genetics
chemical_list: D001224:Aspartic Acid; D014443:Tyrosine; D011392:Proline; D005962:Glucosylceramidase; D008239:Lysine