Article
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.
Molecular genetics and metabolism - 1 Jul 2001
Gjetting T, Romstad A, Haavik J, Knappskog P M, Acosta A X, Silva W A, Zago M A, Guldberg P, Güttler F
Abstract excerpt
Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC 1.14.16.1) are associated with various degrees of hyperphenylalaninemia, including classical phenylketonuria (PKU). We examined the PAH gene in a Brazilian PKU family of African origin and identified three missense variants, R252W (c.754C --> T), K274E (c.820A --> G), and I318T (c.953T --> C), the two latter of which were transmitted in cis....
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