title: A novel splicing abnormality in a Japanese patient with Gaucher's disease.
authors.affiliation: Department of Inherited Metabolic Disease, National Institute of Neuroscience, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ohshima
authors.forename: M
authors.initials: M
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Matsuzaka
authors.forename: N
authors.initials: N
authors.lastname: Sakuragawa
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D005776:Gaucher Disease / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D011061:Poly A / Q000235:genetics; D016133:Polymerase Chain Reaction; D012313:RNA / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D012333:RNA, Messenger; D011061:Poly A; D012313:RNA