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    Nat Struct Biol. 1997 Dec;4(12):995-1000.

    Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.

    Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens RC.

    The 2.0 A crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals a fold similar to that of tyrosine hydroxylase. It provides the first structural view of where mutations occur and a rationale to explain molecular mechanisms of the enzymatic phenotypes in the autosomal recessive disorder phenylketoneuria.

    PMID: 9406548 [PubMed - indexed for MEDLINE]

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