title: Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
abstract: By sequence analysis of 94 phenylketonuria (PKU) alleles using polymerase chain reaction (PCR) based techniques, we identified a G to A transition in exon 5 of the human phenylalanine hydroxylase gene. This base substitution predicts an Arg158----Glu158 amino acid exchange and is strongly associated with the mutant haplotype 4 PKU allele.
authors.affiliation: Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
authors.forename: B
authors.initials: B
authors.lastname: Dworniczak
authors.forename: C
authors.initials: C
authors.lastname: Aulehla-Scholz
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005091:Exons; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D010661:Phenylketonurias / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D015345:Oligonucleotide Probes