title: New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.
authors.affiliation: Department of Psychiatry, Yokohama City University School of Medicine, Japan.
authors.forename: C
authors.initials: C
authors.lastname: Kawanishi
authors.forename: H
authors.initials: H
authors.lastname: Osaka
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: H
authors.initials: H
authors.lastname: Onishi
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: N
authors.initials: N
authors.lastname: Sugiyama
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
authors.forename: T
authors.initials: T
authors.lastname: Hanihara
authors.forename: T
authors.initials: T
authors.lastname: Miyagawa
authors.forename: S
authors.initials: S
authors.lastname: Kimura
mesh_terms: D001483:Base Sequence; D000795:Fabry Disease / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase