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Details on Person Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease
| Class:Id | LiteratureReference:3274546 |
|---|---|
| _displayName | Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease |
| _timestamp | 2013-04-11 21:29:20 |
| author | [Person:198476] Chou, Janice Y [Person:3222601] Mansfield, Brian C |
| created | [InstanceEdit:3274539] D'Eustachio, P, 2013-04-11 |
| journal | Hum. Mutat. |
| modified | [InstanceEdit:3274557] D'Eustachio, P, 2013-04-11 |
| pages | 921-30 |
| pubMedIdentifier | 18449899 |
| title | Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease |
| volume | 29 |
| year | 2008 |
| (literatureReference) | [Reaction:71825] G6PC hydrolyzes G6P to Glc and Pi (liver) [Homo sapiens] [Pathway:3274531] Glycogen storage disease type Ia (G6PC) [Homo sapiens] [FailedReaction:3274540] Defective G6PC does not hydrolyze glucose 6-phosphate [Homo sapiens] [DefinedSet:3274535] G6PC mutants [endoplasmic reticulum membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease (3274546)
