title: Missense mutation in exon 2 of alpha-galactosidase A in a patient with Fabry disease.
authors.affiliation: Department of Dermatology, Dokkyo University School of Medicine, Tochigi, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Ishida
authors.forename: K
authors.initials: K
authors.lastname: Ichimura
authors.forename: A
authors.initials: A
authors.lastname: Yamakage
authors.forename: S
authors.initials: S
authors.lastname: Matsuzaki
authors.forename: S
authors.initials: S
authors.lastname: Yamazaki
mesh_terms: D000328:Adult; D003001:Cloning, Molecular; D005091:Exons / Q000235:genetics; D000795:Fabry Disease / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D000519:alpha-Galactosidase / Q000032:analysis / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase