A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.
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.
Handa
Y
Y
Department of Dermatology, Nagoya University School of Medicine, Nagoya, Japan.
Yotsumoto
S
S
Isobe
E
E
Sai
Y
Y
Yoshii
N
N
Nakao
S
S
Fujita
N
N
Hamaguchi
S
S
Kanzaki
T
T
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
D000519:alpha-Galactosidase