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Details on Person CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features
| Class:Id | LiteratureReference:449280 |
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| _displayName | CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features |
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| _timestamp | 2011-09-29 16:47:18 |
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| author | [Person:449328] Weinstein, M
[Person:449234] Schollen, E
[Person:449294] Matthijs, G
[Person:449233] Neupert, C
[Person:449291] Hennet, T
[Person:449216] Grubenmann, CE
[Person:449215] Frank, CG
[Person:1426004] Aebi, M
[Person:449279] Clarke, JT
[Person:449333] Griffiths, A
[Person:449246] Seargeant, L
[Person:449314] Poplawski, N |
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| created | [InstanceEdit:449318] Jassal, B, 2009-12-02 |
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| journal | Am J Med Genet A |
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| modified | [InstanceEdit:1614742] D'Eustachio, P, 2011-09-29 |
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| pages | 194-7 |
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| pubMedIdentifier | 15945070 |
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| title | CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features |
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| volume | 136 |
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| year | 2005 |
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| (literatureReference) | [Reaction:446215] ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)6 (PP-Dol)1 [Homo sapiens]
[Reaction:446216] ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)8 (PP-Dol)1 [Homo sapiens]
[Pathway:4720454] Defective ALG9 causes CDG-1l [Homo sapiens]
[FailedReaction:4720478] Defective ALG9 does not add the seventh mannose to the N-glycan precursor [Homo sapiens]
[FailedReaction:9035514] Defective ALG9 does not add the last mannose to the N-glycan precursor [Homo sapiens] |
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No pathways have been reviewed or authored by CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features (449280)
