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Details on Person Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies
| Class:Id | LiteratureReference:9955754 |
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| _displayName | Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies |
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| _timestamp | 2025-06-11 15:41:07 |
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| author | [Person:199739] Schmidt, E
[Person:9916554] Nuoffer, Jean-Marc
[Person:3299647] Häberle, Johannes
[Person:3299639] Pauli, Silke
[Person:2458258] Guffon, Nathalie
[Person:6797538] Vianey-Saban, Christine
[Person:9955756] Wermuth, Bendicht
[Person:3318574] Koch, Hans Georg |
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| created | [InstanceEdit:9955755] Rothfels, Karen, 2025-06-11 |
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| journal | Biochim Biophys Acta |
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| pages | 54-9 |
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| pubMedIdentifier | 15878741 |
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| title | Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies |
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| volume | 1740 |
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| year | 2005 |
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| (literatureReference) | [FailedReaction:9955697] NAGS variants don't synthesize N-acetylglutamate [Homo sapiens]
[EntityWithAccessionedSequence:9955651] NAGS S410P [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9955655] NAGS A518T [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9955779] NAGS C200R [mitochondrial matrix] [Homo sapiens] |
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