Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria

European Journal of Biochemistry

Volumn 257, Issue 1, 1998, Pages 1-10

  Bjørgo, Elisa ^a   Knappskog, Per M ^a   Martinez, Aurora ^a   Stevens, Raymond C ^b   Flatmark, Torgeir ^a  

^a UNIVERSITY OF BERGEN   (Norway)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Mutation; Phenylalanine hydroxylase; Phenylketonuria expression; Protein stability; Three dimensional structure

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID METABOLISM; ARTICLE; ENZYME ASSAY; ENZYME CONFORMATION; EXON; GENE EXPRESSION REGULATION; GENE LOCATION; HUMAN; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PHENYLKETONURIA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN STABILITY;

ESCHERICHIA COLI;

EID: 0032188782     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1327.1998.2570001.x     Document Type: Article

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