Article
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
Clinical genetics - 1 Jun 2004
Ki C-S, Han S-H, Kim H-J, Lee S-G, Kim E-J, Kim J-W, Choe Y H, Seo J K, Chang Y J, Park J Y
Abstract excerpt
Glycogen storage disease type Ia (GSD Ia; MIM 232200) is an autosomal recessive inherited metabolic disorder resulting from a deficiency of the microsomal glucose-6-phosphatase (G6Pase), the enzyme that catalyzes the terminal step in gluconeogenesis and glycogenolysis. Various mutations in the G6Pase gene (G6PC) have been found in patients with GSD Ia. To elucidate the spectrum of the G6PC gene mutations, 13...
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