title: A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.
abstract: We report a case of symptomatic heterozygous female Fabry's disease with low alpha-galactosidase blood activity. We could not find any mutations in the coding regions of either the signal peptide or the enzyme subunit in our case.
authors.affiliation: Department of Dermatology, Nagoya University School of Medicine, Nagoya, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Handa
authors.forename: S
authors.initials: S
authors.lastname: Yotsumoto
authors.forename: E
authors.initials: E
authors.lastname: Isobe
authors.forename: Y
authors.initials: Y
authors.lastname: Sai
authors.forename: N
authors.initials: N
authors.lastname: Yoshii
authors.forename: S
authors.initials: S
authors.lastname: Nakao
authors.forename: N
authors.initials: N
authors.lastname: Fujita
authors.forename: S
authors.initials: S
authors.lastname: Hamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Kanzaki
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D012871:Skin Diseases / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D000519:alpha-Galactosidase / Q000235:genetics* / Q000378:metabolism
chemical_list: D000519:alpha-Galactosidase