A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
Okubo
M
M
Aoyama
Y
Y
Murase
T
T
D001483:Base Sequence; D018076:DNA, Complementary; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D012326:RNA Splicing
D018076:DNA, Complementary; D006004:Glycogen Debranching Enzyme System