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Details on Person Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart
| Class:Id | LiteratureReference:3274538 |
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| _displayName | Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart |
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| _timestamp | 2013-04-11 21:29:18 |
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| author | [Person:3274552] Rake, Jan Peter
[Person:3274534] ten Berge, Annelies M
[Person:375464] Visser, G
[Person:3274537] Verlind, Edwin
[Person:3274542] Niezen-Koning, Klary E
[Person:3274543] Buys, Charles H C M
[Person:3274554] Smit, G Peter A
[Person:3274533] Scheffer, Hans |
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| created | [InstanceEdit:3274539] D'Eustachio, P, 2013-04-11 |
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| journal | Eur. J. Pediatr. |
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| modified | [InstanceEdit:3274557] D'Eustachio, P, 2013-04-11 |
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| pages | 322-30 |
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| pubMedIdentifier | 10834516 |
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| title | Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart |
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| volume | 159 |
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| year | 2000 |
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| (literatureReference) | [DefinedSet:3274535] G6PC mutants [endoplasmic reticulum membrane] [Homo sapiens]
[EntityWithAccessionedSequence:3274556] G6PC R170Q [endoplasmic reticulum membrane] [Homo sapiens] |
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