Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.
Hüner
G
G
Department of Pediatrics, Istanbul Faculty of Medicine, University of Istanbul, Turkey.
Podskarbi
T
T
Schütz
M
M
Baykal
T
T
Sarbat
G
G
Shin
Y S
YS
Demirkol
M
M
D005091:Exons; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D014421:Turkey
D005952:Glucose-6-Phosphatase