A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).
Wu
M C
MC
Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
Tsai
F J
FJ
Lee
C C
CC
Tsai
C H
CH
Wu
J Y
JY
D017398:Alternative Splicing / Q000235:genetics; D002681:China / Q000208:ethnology; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009679:Nuclear Family / Q000208:ethnology; D013624:Taiwan / Q000453:epidemiology
D006639:Histidine; D005952:Glucose-6-Phosphatase; D007930:Leucine