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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

Fig. 1

Distribution and frequencies of mutations in the exons and functional domains of G6PC. a Eight mutations were identified in exons 1 through 5 of the G6PC gene, affecting the function of the encoded enzyme (b). c Frequencies of various G6PC mutations in Korean patients with GSD Ia, showing the predominance of the c.648G > T mutation

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172