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The Role of Phenylalanine in Structure-Function Relationships of Phenylalanine Hydroxylase Revealed by Radiation Target Analysis

✍ Scribed by Michael D. Davis, Michael A. Parniak, Seymour Kaufman and Ellis Kempner

Book ID
123640366
Publisher
National Academy of Sciences
Year
1997
Tongue
English
Weight
761 KB
Volume
94
Category
Article
ISSN
0027-8424

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Mutations in the human phenylalanine hydroxylase gene (PAH) altering the expressed cDNA nucleotide sequence (GenBank U49897) can impair activity of the corresponding enzyme product (hepatic phenylalanine hydroxylase, PAH) and cause hyperphenylalaninemia (HPA), a metabolic phenotype for which the maj