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Mutations in the Glucose-6-Phosphatase-α (G6PC) Gene that Cause Type Ia Glycogen Storage Disease
Glucose-6-phosphatase-α (G6PC) is a key enzyme in glucose homeostasis that catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis. Mutations in the G6PC gene, located on chromosome 17q21, result in glycogen storage disease...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2475600/ https://ncbi.nlm.nih.gov/pubmed/18449899 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20772 |
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