BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor

Clinica Chimica Acta

Volumn 380, Issue 1-2, 2007, Pages 8-12

  Aguado, Cristina ^a,c   Pérez, Belen ^a,c   Garcéa, M José ^a,c   Bélanger Quintana, Amaya ^b,c   Martínez Pardo, Mercedes ^b,c   Ugarte, Magdalena ^a,c   Desviat, Lourdes R ^a,c  

^a CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

BH4 responsiveness; Phenylalanine hydroxylase; Phenylketonuria; PKU mutation; Tetrahydrobiopterin

Indexed keywords

5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; DRUG DERIVATIVE; HYBRID PROTEIN; NITRIC OXIDE SYNTHASE; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG;

ARTICLE; GENETICS; GENOTYPE; HUMAN; METABOLISM; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHENYLKETONURIA; PROTEIN CONFORMATION;

BIOPTERIN; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; NITRIC OXIDE SYNTHASE; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEIN CONFORMATION; RECOMBINANT FUSION PROTEINS;

EID: 34447550340     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2007.02.034     Document Type: Article

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