The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme

Per M. Knappskog1, Hans Geir Eiken1, Aurora Martı́nez2, Torgeir Flatmark2, Jaran Apold1
1Department of Medical Genetics, Haukeland Hospital, Bergen, Norway
2Department of Biochemistry and Molecular Biology, University of Bergen, Bergen, Norway

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