title: Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.
abstract: 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.
authors.affiliation: Xinhua Hospital Affiliated to Shanghai Second Medical University, Shanghai Institute for Pediatric Research, Shanghai, China. wenjuan_qiu@sina.com
authors.forename: W J
authors.initials: WJ
authors.lastname: Qiu
authors.forename: X F
authors.initials: XF
authors.lastname: Gu
authors.forename: J
authors.initials: J
authors.lastname: Ye
authors.forename: L Sh
authors.initials: LSh
authors.lastname: Han
authors.forename: Y F
authors.initials: YF
authors.lastname: Zhang
authors.forename: X Q
authors.initials: XQ
authors.lastname: Liu
mesh_terms: D044466:Asian People; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D005952:Glucose-6-Phosphatase