Missense mutation in exon 2 of alpha-galactosidase A in a patient with Fabry disease.
Ishida
S
S
Department of Dermatology, Dokkyo University School of Medicine, Tochigi, Japan.
Ichimura
K
K
Yamakage
A
A
Matsuzaki
S
S
Yamazaki
S
S
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*
D000519:alpha-Galactosidase