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Abstract Glycogen storage disease type Ia (GSD Ia) is caused by a deficiency of glucose-6-phosphatase (G6Pase) activity. Eighteen GSD Ia families were studied for G6Pase gene mutations. Thirty-two mutations were found in 36 GSD Ia chromosomes: 16 were 727 GT (44.44%); 13 were R83H (327 GT; 36.11%); 1 was 341delG; 1 was 933insAA; and 1 was 793 GT. The 727 GT and R83H mutations together accounted for...
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