Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
Second Department of Internal Medicine, Osaka University Medical School, Japan.
T
T
Hamaguchi
H
H
Nakajima
T
T
Noguchi
C
C
Nakagawa
M
M
Kuwajima
N
N
Kono
S
S
Tarui
Y
Y
Matsuzawa
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003545:Cysteine; D004247:DNA / Q000097:blood; D005091:Exons; D006014:Glycogen Storage Disease Type VII / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D007564:Japan; D007962:Leukocytes; D008297:Male; D010732:Phosphofructokinase-1 / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012156:Reticulocytes; D014364:Tryptophan
D007527:Isoenzymes; D014364:Tryptophan; D004247:DNA; D010732:Phosphofructokinase-1; D003545:Cysteine