Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.
Uotani
S
S
First Department of Internal Medicine, Nagasaki University School of Medicine, Japan.
Yamasaki
H
H
Takino
H
H
Kawasaki
E
E
Matsuo
H
H
Yamasaki
S
S
Jinno
Y
Y
Niikawa
N
N
Ito
M
M
Sugie
H
H
Yamaguchi
Y
Y
Eguchi
K
K
D000328:Adult; D016022:Case-Control Studies; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000172:deficiency* / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012326:RNA Splicing / Q000235:genetics
D006004:Glycogen Debranching Enzyme System