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Details on Person The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
| Class:Id | LiteratureReference:4085223 |
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| _displayName | The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy |
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| _timestamp | 2013-08-02 15:58:21 |
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| author | [Person:4085201] Eisenberg, I
[Person:4085228] Avidan, N
[Person:4085234] Potikha, T
[Person:4085239] Hochner, H
[Person:2426364] Chen, M
[Person:4085188] Olender, T
[Person:4085202] Barash, M
[Person:4085220] Shemesh, M
[Person:4085243] Sadeh, M
[Person:4085218] Grabov-Nardini, G
[Person:4085213] Shmilevich, I
[Person:4085237] Friedmann, A
[Person:4085203] Karpati, G
[Person:4085236] Bradley, W G
[Person:4085208] Baumbach, L
[Person:4085192] Lancet, D
[Person:4085242] Asher, E B
[Person:4085232] Beckmann, J S
[Person:4085216] Argov, Z
[Person:4085189] Mitrani-Rosenbaum, S |
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| created | [InstanceEdit:4085207] Jassal, Bijay, 2013-08-02 |
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| journal | Nat. Genet. |
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| pages | 83-7 |
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| pubMedIdentifier | 11528398 |
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| title | The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy |
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| volume | 29 |
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| year | 2001 |
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| (literatureReference) | [Reaction:4085021] GNE hydrolyzes and epimerises UDP-GlcNAc to ManNAc and UDP [Homo sapiens]
[Reaction:4085028] GNE phosphorylates ManNAc to ManNAc-6-P [Homo sapiens]
[FailedReaction:4088322] Defective GNE does not phosphorylate ManNAc to ManNAc-6-P [Homo sapiens]
[FailedReaction:4088338] Defective GNE does not hydrolyse UDP-GlcNAc [Homo sapiens] |
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