Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene.
Li
Dong-Zhi
DZ
Liao
Can
C
Tang
Xue-Wei
XW
D015193:Chorionic Villi Sampling; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D011247:Pregnancy
D005952:Glucose-6-Phosphatase