In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene

Chinese Journal of Medical Genetics

Volumn 25, Issue 1, 2008, Pages 1-5

  Song, Fang ^a   Qu, Yu Jin ^a   Okano, Yoshiyuki ^b   Ye, Zhi Qiang ^c   Zhang, Yu Min ^d   Jin, Yu Wei ^a   Wang, Hong ^a  

^a CAPITAL INSTITUTE OF PEDIATRICS   (China)

^b OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c PEKING UNIVERSITY   (China)

^d Beijing Newborn Disease Screening Center   (China)

Author keywords

3D molecular structure; Mutant gene; Phenylalanine hydroxylase; Residual enzyme activity

Indexed keywords

AMINO ACID; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME BINDING; ENZYME STABILITY; GENE EXPRESSION; GENOTYPE; HUMAN; IN VITRO STUDY; MAMMAL CELL; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PHENOTYPE; PHENYLKETONURIA; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; PROTEIN STRUCTURE; STRUCTURE ANALYSIS; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; STRUCTURE-ACTIVITY RELATIONSHIP;

ANIMALIA; MAMMALIA;

EID: 44849138182     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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