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Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

✍ Scribed by Emre Kayaalp; Eileen Treacy; Paula J. Waters; Susan Byck; Piotr Nowacki; Charles R. Scriver

Book ID: 117852232
Publisher: American Society of Human Genetics
Year: 1997
Tongue: English
Weight: 109 KB
Volume: 61
Category: Article
ISSN: 0002-9297
DOI: 10.1086/301638

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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