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Details on Person Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis
| Class:Id | LiteratureReference:389997 |
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| _displayName | Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis |
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| _timestamp | 2010-03-08 00:20:59 |
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| author | [Person:193458] Ferdinandusse, Sacha
[Person:389990] Ylianttila, MS
[Person:389985] Gloerich, Jolein
[Person:389993] Koski, MK
[Person:213272] Oostheim, W
[Person:191298] Waterham, HR
[Person:389988] Hiltunen, J Kalervo
[Person:201079] Wanders, Ronald J A
[Person:389992] Glumoff, T |
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| created | [InstanceEdit:389984] D'Eustachio, P, 2009-01-21 23:05:37 |
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| journal | Am J Hum Genet |
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| modified | [InstanceEdit:390001] D'Eustachio, P, 2009-01-21 23:06:24
[InstanceEdit:538689] D'Eustachio, P, 2010-03-08 |
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| pages | 112-24 |
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| pubMedIdentifier | 16385454 |
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| title | Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis |
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| volume | 78 |
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| year | 2006 |
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| (literatureReference) | [CatalystActivityReference:9914130] 3-hydroxyacyl-CoA dehydratase activity of HSD17B4 dimer [peroxisomal matrix] Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis
[Reaction:389986] trans-2,3-dehydropristanoyl-CoA + H2O => 3-hydroxypristanoyl-CoA [Homo sapiens]
[Reaction:389995] 3-hydroxypristanoyl-CoA + NAD+ => 3-ketoxypristanoyl-CoA + NADH + H+ [Homo sapiens]
[Reaction:390251] HSD17B4 dehydrogenates 3-hydroxyhexacosanoyl-CoA [Homo sapiens]
[Reaction:390252] HSD17B4 hydrates trans-2,3-dehydrohexacosanoyl-CoA [Homo sapiens] |
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