| Property |
Value |
| dbo:abstract
|
- La Fenilalanina hidroxilasa (PAH) (EC 1.14.16.1) es la enzima que cataliza la conversión del aminoácido fenilalanina en tirosina (es)
- La Fenilalanina hidroxilasa (PAH) (EC 1.14.16.1) es la enzima que cataliza la conversión del aminoácido fenilalanina en tirosina (es)
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| dbo:arm
| |
| dbo:band
| |
| dbo:chromosome
| |
| dbo:entrezgene
| |
| dbo:hgncid
| |
| dbo:omim
| |
| dbo:refseq
| |
| dbo:symbol
| |
| dbo:uniprot
| |
| dbo:wikiPageExternalLink
| |
| dbo:wikiPageID
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| dbo:wikiPageLength
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| dbo:wikiPageRevisionID
| |
| prop-es:altsymbols
|
- PH, PKU (es)
- PH, PKU (es)
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| prop-es:autor
|
- Cotton RG (es)
- Eisensmith RC, Woo SL (es)
- Erlandsen H, Fusetti F, Martinez A, et al. (es)
- Konecki DS, Lichter-Konecki U (es)
- Waters PJ (es)
- Waters PJ, Parniak MA, Nowacki P, Scriver CR (es)
- Cotton RG (es)
- Eisensmith RC, Woo SL (es)
- Erlandsen H, Fusetti F, Martinez A, et al. (es)
- Konecki DS, Lichter-Konecki U (es)
- Waters PJ (es)
- Waters PJ, Parniak MA, Nowacki P, Scriver CR (es)
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| prop-es:año
|
- 1991 (xsd:integer)
- 1993 (xsd:integer)
- 1998 (xsd:integer)
- 2003 (xsd:integer)
|
| prop-es:banda
| |
| prop-es:brazo
| |
| prop-es:cromosoma
| |
| prop-es:doi
|
- 101002 (xsd:integer)
- 101007 (xsd:integer)
- 101038 (xsd:integer)
|
| prop-es:ecNumber
| |
| prop-es:entrezgene
| |
| prop-es:hgncid
| |
| prop-es:imageSource
|
- Estructura 3D structure de la felinalanina hidroxilasa (es)
- Estructura 3D structure de la felinalanina hidroxilasa (es)
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| prop-es:name
|
- Fenilalanina hidroxilasa (es)
- Fenilalanina hidroxilasa (es)
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| prop-es:número
|
- 1 (xsd:integer)
- 4 (xsd:integer)
- 5 (xsd:integer)
- 12 (xsd:integer)
|
| prop-es:omim
| |
| prop-es:pmid
|
- 1301187 (xsd:integer)
- 1679029 (xsd:integer)
- 2246858 (xsd:integer)
- 9406548 (xsd:integer)
- 9450897 (xsd:integer)
- 12655545 (xsd:integer)
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| prop-es:publicación
|
- Hum. Genet. (es)
- Hum. Mutat. (es)
- J. Inherit. Metab. Dis. (es)
- Nat. Struct. Biol. (es)
- Hum. Genet. (es)
- Hum. Mutat. (es)
- J. Inherit. Metab. Dis. (es)
- Nat. Struct. Biol. (es)
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| prop-es:páginas
|
- 4 (xsd:integer)
- 13 (xsd:integer)
- 357 (xsd:integer)
- 377 (xsd:integer)
- 739 (xsd:integer)
- 995 (xsd:integer)
|
| prop-es:refseq
|
- NM_000277 (es)
- NM_000277 (es)
|
| prop-es:símbolo
| |
| prop-es:título
|
- Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. (es)
- In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. (es)
- Heterogeneity of phenylketonuria at the clinical, protein and DNA levels. (es)
- The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. (es)
- Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria. (es)
- How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. (es)
- Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. (es)
- In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. (es)
- Heterogeneity of phenylketonuria at the clinical, protein and DNA levels. (es)
- The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. (es)
- Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria. (es)
- How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. (es)
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| prop-es:uniprot
| |
| prop-es:volumen
|
- 1 (xsd:integer)
- 4 (xsd:integer)
- 11 (xsd:integer)
- 13 (xsd:integer)
- 21 (xsd:integer)
- 87 (xsd:integer)
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| dct:subject
| |
| rdf:type
| |
| rdfs:comment
|
- La Fenilalanina hidroxilasa (PAH) (EC 1.14.16.1) es la enzima que cataliza la conversión del aminoácido fenilalanina en tirosina (es)
- La Fenilalanina hidroxilasa (PAH) (EC 1.14.16.1) es la enzima que cataliza la conversión del aminoácido fenilalanina en tirosina (es)
|
| rdfs:label
|
- Fenilalanina hidroxilasa (es)
- Fenilalanina hidroxilasa (es)
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| owl:sameAs
| |
| prov:wasDerivedFrom
| |
| foaf:isPrimaryTopicOf
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| is owl:sameAs
of | |
| is foaf:primaryTopic
of | |
