Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene

Clinica Chimica Acta

Volumn 365, Issue 1-2, 2006, Pages 279-287

  Kim, Sang Wun ^a,b   Jung, Jongsun ^c   Oh, Hyun Jeong ^a,d   Kim, Jihong ^c   Lee, Kwang Soo ^a,d   Lee, Dong Hwan ^e   Park, Chan ^c   Kimm, Kuchan ^c   Koo, Soo Kyung ^a   Jung, Sung Chul ^f  

^a Korea National Institute of Health   (South Korea)

^b Yonsei University   (South Korea)

^c National Genome Research Institute   (South Korea)

^d Korea University   (South Korea)

^e Soonchunhyang University   (South Korea)

^f Ewha Womans University School of Medicine   (South Korea)

Author keywords

BH4; Expression; Hyperphenylalaninemia; Modeling; Mutation; PAH; Phenylalanine hydroxylase; Phenylketonuria; PKU; Structure; Tetrahydrobiopterin

Indexed keywords

3 TETRAHYDROBIOPTERIN; BIOPTERIN; PHENYLALANINE 4 MONOOXYGENASE; TETRAMER; UNCLASSIFIED DRUG;

ARTICLE; ASIAN; COMPUTER PROGRAM; ENZYME STRUCTURE; GENE MUTATION; GENE SEQUENCE; HUMAN; IN VITRO STUDY; MISSENSE MUTATION; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN EXPRESSION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; COS CELLS; DNA PRIMERS; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION, MISSENSE; PHENYLALANINE HYDROXYLASE; PROTEIN CONFORMATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 32044444061     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2005.09.019     Document Type: Article

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