Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.
Carlin MP et al.
Genetics and Molecular Biology, 2013
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.
Shieh JJ et al.
The Journal of Biological Chemistry, 2002
Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors.
Nakamura T et al.
Journal of Gastroenterology and Hepatology, 2001
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
Kozák L et al.
Human Mutation, 2000
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
Rake JP et al.
European Journal of Pediatrics, 2000
Glycogen storage disease type 1a in three siblings with the G270V mutation.
Parvari R et al.
Journal of Inherited Metabolic Disease, 1999
Molecular Genetics of Type 1 Glycogen Storage Diseases.
Yang Chou J et al.
Trends in Endocrinology and Metabolism: Tem, 1999
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.
Bruni N et al.
Annals of Human Genetics, 1999
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
Stroppiano M et al.
Journal of Inherited Metabolic Disease, 1999
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
Rake JP et al.
Human Mutation, 1999
Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.
Trioche P et al.
Human Mutation, 1999
Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase.
Pan CJ et al.
The Journal of Biological Chemistry, 1998
Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene.
Wong LJ et al.
Human Genetics, 1998
Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.
Lam CW et al.
Clinical Genetics, 1998
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
Parvari R et al.
American Journal of Medical Genetics, 1997
Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers.
Okubo M et al.
Clinical Genetics, 1997
Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP).
Parvari R et al.
Prenatal Diagnosis, 1996
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Chevalier-Porst F et al.
Journal of Medical Genetics, 1996
Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.
Parvari R et al.
Journal of Inherited Metabolic Disease, 1995