title: A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
authors.forename: M
authors.initials: M
authors.lastname: Okubo
authors.forename: Y
authors.initials: Y
authors.lastname: Aoyama
authors.forename: T
authors.initials: T
authors.lastname: Murase
mesh_terms: D001483:Base Sequence; D018076:DNA, Complementary; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D012326:RNA Splicing
chemical_list: D018076:DNA, Complementary; D006004:Glycogen Debranching Enzyme System