Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.
Sequence analysis of 26 patients from Mainland China with glycogen storage disease type Ia revealed a high frequency of two mutations in the glucose-6-phosphatase gene. These mutations, 727G>T and R83H, were also found to be in linkage disequilibrium with a polymorphism at position 1176. These findings have implications for carrier detection and prenatal diagnosis of this disease in the Chinese population.
Qiu
W J
WJ
Xinhua Hospital Affiliated to Shanghai Second Medical University, Shanghai Institute for Pediatric Research, Shanghai, China. wenjuan_qiu@sina.com
Gu
X F
XF
Ye
J
J
Han
L Sh
LSh
Zhang
Y F
YF
Liu
X Q
XQ
D044466:Asian People; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D009154:Mutation
D005952:Glucose-6-Phosphatase