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owl:Thing wikidata:Q8054 dbo:Protein dbo:Biomolecule wikidata:Q206229
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Fenilalanina hidroxilasa
rdfs:comment
La Fenilalanina hidroxilasa (PAH) (EC 1.14.16.1) es la enzima que cataliza la conversión del aminoácido fenilalanina en tirosina
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PH, PKU
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Waters PJ, Parniak MA, Nowacki P, Scriver CR Eisensmith RC, Woo SL Cotton RG Konecki DS, Lichter-Konecki U Waters PJ Erlandsen H, Fusetti F, Martinez A, et al.
prop-es:año
1991 2003 1993 1998
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22
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q
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12
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101038 101002 101007
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5053
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8582
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Estructura 3D structure de la felinalanina hidroxilasa
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Fenilalanina hidroxilasa
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12 4 5 1
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261600
prop-es:pmid
1301187 1679029 12655545 9450897 2246858 9406548
prop-es:publicación
Hum. Mutat. Nat. Struct. Biol. Hum. Genet. J. Inherit. Metab. Dis.
prop-es:páginas
357 739 377 995 13 4
prop-es:refseq
NM_000277
prop-es:símbolo
PAH
prop-es:título
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Heterogeneity of phenylketonuria at the clinical, protein and DNA levels. In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function. Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria. Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
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P00439
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87 21 11 13 1 4
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114161
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120657651
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NM_000277
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PH, PKU PAH
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P00439
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La Fenilalanina hidroxilasa (PAH) (EC 1.14.16.1) es la enzima que cataliza la conversión del aminoácido fenilalanina en tirosina
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