New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.
Kawanishi
C
C
Department of Psychiatry, Yokohama City University School of Medicine, Japan.
Osaka
H
H
Inoue
K
K
Onishi
H
H
Yamada
Y
Y
Sugiyama
N
N
Suzuki
K
K
Hanihara
T
T
Miyagawa
T
T
Kimura
S
S
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*
D000519:alpha-Galactosidase