The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

doi:10.1007/BF00197152

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Article

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Human genetics - 1 Aug 1991

Konecki D S, Lichter-Konecki U

Abstract excerpt

The hyperphenylalaninemic disorders of classic phenylketonuria (PKU), mild phenylketonuria, and hyperphenylalaninemia (HPA), result from a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH) or its cofactor (tetrahydrobiopterin). Use of the complementary DNA of this enzyme has allowe...

Topics

Alleles
Chromosome Mapping
Genetics, Population
Haplotypes
Humans
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Restriction Fragment Length

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