title: Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.
authors.affiliation: First Department of Internal Medicine, Nagasaki University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Uotani
authors.forename: H
authors.initials: H
authors.lastname: Yamasaki
authors.forename: H
authors.initials: H
authors.lastname: Takino
authors.forename: E
authors.initials: E
authors.lastname: Kawasaki
authors.forename: H
authors.initials: H
authors.lastname: Matsuo
authors.forename: S
authors.initials: S
authors.lastname: Yamasaki
authors.forename: Y
authors.initials: Y
authors.lastname: Jinno
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: H
authors.initials: H
authors.lastname: Sugie
authors.forename: Y
authors.initials: Y
authors.lastname: Yamaguchi
authors.forename: K
authors.initials: K
authors.lastname: Eguchi
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000172:deficiency* / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012326:RNA Splicing / Q000235:genetics
chemical_list: D006004:Glycogen Debranching Enzyme System