Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine

American Journal of Human Genetics

Volumn 68, Issue 6, 2001, Pages 1353-1360

  Gjetting, T ^a   Petersen, M ^a   Guldberg, P ^a   Guttler F ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; ENZYME DEFECT; ESCHERICHIA COLI; GENOTYPE; HUMAN; HUMAN CELL; HYPERPHENYLALANINEMIA; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STABILITY;

BACTERIA (MICROORGANISMS); ESCHERICHIA COLI;

EID: 0034981940     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320604     Document Type: Article

References (35)

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