Article
Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients.
Human heredity - 1 Jan 2001
Zekanowski C, Jurkowska M, Bal J
Abstract excerpt
Hereditary hyperphenylalaninemia (HPA) is a disorder of amino acid metabolism and results from an insufficiency of hepatic phenylalanine hydroxylase (PAH). HPA phenotypes form a spectrum ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninemia (MHP). The phenotypic diversity reflects heterogeneity at the molecular level, and more than 320 different mutations in the PAH gene are known to date....
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