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

✍ Scribed by Erlandsen, Heidi; Fusetti, Fabrizia; Martinez, Aurora; Hough, Edward; Flatmark, Torgeir; Stevens, Raymond C.


Book ID
109965387
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
872 KB
Volume
4
Category
Article
ISSN
1072-8368

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Mutations in the human phenylalanine hydroxylase gene producing phenylketonuria or hyperphenylalaninemia have now been identified in many patients from various ethnic groups. These mutations all exhibit a high degree of association with specific restriction fragment-length polymorphism haplotypes at