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Details on Person Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase
| Class:Id | LiteratureReference:195693 |
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| _displayName | Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase |
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| _timestamp | 2011-09-28 22:32:46 |
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| author | [Person:195672] Brunetti-Pierri, N
[Person:195687] Corso, G
[Person:195654] Rossi, M
[Person:195675] Ferrari, Paola
[Person:195661] Balli, F
[Person:195679] Rivasi, F
[Person:195703] Annunziata, I
[Person:1605728] Ballabio, A
[Person:195705] Dello Russo, A
[Person:195660] Andria, G
[Person:195683] Parenti, Giancarlo |
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| created | [InstanceEdit:195668] D'Eustachio, P, 2007-04-12 15:55:15 |
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| journal | Am J Hum Genet |
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| modified | [InstanceEdit:1614507] D'Eustachio, P, 2011-09-28 |
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| pages | 952-8 |
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| pubMedIdentifier | 12189593 |
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| title | Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase |
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| volume | 71 |
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| year | 2002 |
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| (literatureReference) | [Reaction:195664] Cholesta-7,24-dien-3beta-ol is desaturated to form cholesta-5,7,24-trien-3beta-ol [Homo sapiens]
[Reaction:6807053] SC5D desaturates LTHSOL to 7-dehydroCHOL [Homo sapiens]
[CatalystActivityReference:9643764] C-5 sterol desaturase activity of SC5D [endoplasmic reticulum membrane] Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase |
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