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Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.

Annals of human genetics - 1 Mar 1999

Bruni N, Rajas F, Montano S, Chevalier-Porst F, Maire I, Mithieux G

Abstract excerpt

Glycogen storage disease type 1a (GSD1a) is caused by mutations in the gene of glucose-6 phosphatase (G6PC), encoding the last enzyme of gluconeogenesis and glycogenolysis. To study the effect of mutations previously identified, but not yet enzymatically characterized, in French GSD1a patients, we used an in vitro expression system of the human glucose-6 phosphatase (hGlc6Pase) cDNA. Wild type hGlc6Pase expressed...

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PMID: 10738525
DOI: 10.1046/j.1469-1809.1999.6320141.x

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