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

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@article{Bruni1999EnzymaticCO, title={Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.}, author={N Bruni and Fabienne Rajas and Sandrine Montano and Françoise Chevalier-Porst and Ir{\`e}ne Maire and Gilles Mithieux}, journal={Annals of human genetics}, year={1999}, volume={63 Pt 2}, pages={141-6} }