Article
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Molecular genetics and metabolism - 1 Jul 2007
Dobrowolski Steven F, Ellingson Clinton, Coyne Thomas, Grey Jesse, Martin Ranae, Naylor Edwin W, Koch Richard, Levy Harvey L
Abstract excerpt
Phenylketonuria (PKU, MIM 261600; EC 1.14.16.1) results from mutations in the phenylalanine hydroxylase (PAH) gene. Newborn metabolic disease screening uses blood dried on filter paper (DBS) to prospectively identify candidate newborns affected with PKU via an elevated concentration of phenylalan...
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