Genetic analysis of the glucose-6-phosphatase mutation of type la glycogen storage disease in a Chinese family
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb02627.x/fullpdf
Reference21 articles.
1. Diagnosis of a novel glycogen storage disease: type laSP;Burchell;J Inner Metab Dis,1990
2. Stabilisation of glucose-6-phosphatase activity by a 21,000 dalton hepatic microsomal protein;Burchell;Biochem J,1985
3. Diagnosis of type la and type lc glycogen storage diseases in adults;Burchell;Lancet,1987
4. A new microtechnique for the analysis of the human hepatic microsomal glucose 6-phos-phatase system;Burchell;Clin Chim Acta,1988a
5. Identification of the human hepatic microsomal glucose-6-phosphatase enzyme;Burchell;FEBS Lett,1988b
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1. Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins;FEBS Journal;2013-02-24
2. Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type la;Clinical Genetics;2008-06-28
3. A novel Dral polymorphism in the 3‘ untranslated region of human glucose-6-phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a;Clinical Genetics;2008-06-28
4. Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease;Human Mutation;2008
5. Molecular Genetics of Type 1 Glycogen Storage Disease;Molecular Genetics and Metabolism;2001-06
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