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Details on Person Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
| Class:Id | LiteratureReference:193487 |
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| _displayName | Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis |
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| _timestamp | 2007-02-19 17:37:09 |
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| author | [Person:192014] Cali, JJ
[Person:193528] Hsieh, CL
[Person:193504] Francke, U
[Person:192138] Russell, David W |
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| created | [InstanceEdit:193476] D'Eustachio, P, 2007-02-19 17:36:33 |
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| journal | J Biol Chem |
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| pages | 7779-83 |
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| pubMedIdentifier | 2019602 |
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| title | Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis |
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| volume | 266 |
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| year | 1991 |
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| (literatureReference) | [Reaction:191999] CYP27A1 27-hydroxylates 5bCHOL3a,7a,12a-triol [Homo sapiens]
[Reaction:193393] 5beta-cholestan-3alpha, 7alpha-diol is hydroxylated to 5beta-cholestan-3alpha, 7alpha, 26-triol [Homo sapiens]
[Reaction:193787] 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol is hydroxylated to 5beta-cholestan-3alpha,7alpha,12alpha,24(S), 27-pentol [Homo sapiens]
[Reaction:193792] CYP27A1 27-hydroxylates 5β-CHOL3α,7α,24(s)-triol [Homo sapiens] |
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