Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria

European Journal of Human Genetics

Volumn 8, Issue 9, 2000, Pages 683-696

  Jennings, Ian G ^a   Cotton, Richard G H ^b   Kobe, Bostjan ^a  

^a ST VINCENT'S INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b Mutation Research Centre   (Australia)

Author keywords

Genotype phenotype correlations; Hydroxylase; Hyperphenylalaninaemia; Phenylalanine; Phenylketonuria; X ray crystal structure

Indexed keywords

AMINO ACID; HYBRID PROTEIN; NEUROTRANSMITTER; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TYROSINE;

AMINO ACID METABOLISM; AMINO ACID SEQUENCE; ARTICLE; BIOSYNTHESIS; CATABOLISM; CATALYSIS; CONTROLLED STUDY; CRYSTAL STRUCTURE; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HYPERPHENYLALANINEMIA; IN VITRO STUDY; MISSENSE MUTATION; PHENOTYPE; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SYNTHESIS; RNA SPLICING; STRUCTURE ANALYSIS;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BINDING SITES; CRYSTALLOGRAPHY, X-RAY; DIMERIZATION; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEIN STRUCTURE, TERTIARY; RATS; SEQUENCE DELETION;

EID: 0033822814     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200518     Document Type: Article

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