Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).
Wu
M C
MC
Department of Medical Research, China Medical College Hospital, Taichung.
Tsai
F J
FJ
Le
C C
CC
Lin
S P
SP
Wu
J Y
JY
D000409:Alanine; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002681:China / Q000208:ethnology; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D013912:Threonine
D013912:Threonine; D005952:Glucose-6-Phosphatase; D000409:Alanine