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  • Title: Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
    Author: Dworniczak B, Aulehla-Scholz C, Horst J.
    Journal: Hum Genet; 1989 Dec; 84(1):95-6. PubMed ID: 2606484.
    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.
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