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Details on Person Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency
| Class:Id | LiteratureReference:198390 |
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| _displayName | Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency |
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| _timestamp | 2007-06-18 16:47:05 |
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| author | [Person:198409] Bourgeron, T
[Person:198383] Chretien, D
[Person:198395] Poggi-Bach, J
[Person:198425] Doonan, S
[Person:198410] Rabier, D
[Person:198421] Letouzé, P
[Person:198400] Munnich, A
[Person:198420] Rötig, A
[Person:198408] Landrieu, P
[Person:198402] Rustin, P |
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| created | [InstanceEdit:198405] D'Eustachio, P, 2007-06-18 16:46:57 |
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| journal | J Clin Invest |
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| pages | 2514-2518 |
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| pubMedIdentifier | 8200987 |
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| title | Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency |
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| volume | 93 |
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| year | 1994 |
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| (literatureReference) | [Reaction:70982] FH tetramer hydrates fumarate to L-malate [Homo sapiens]
[Reaction:451033] (S)-Malate <=> Fumarate + H2O [Homo sapiens]
[Reaction:9854305] Cytosolic FH tetramer hydrates fumarate to L-malate [Homo sapiens]
[Reaction:9863537] Clone of (S)-Malate <=> Fumarate + H2O [Homo sapiens]
[CatalystActivityReference:9643531] fumarate hydratase activity of FH tetramer [mitochondrial matrix] Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency |
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