Summary
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.
References
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Dworniczak, B., Aulehla-Scholz, C. & Horst, J. Phenylketonuria: detection of a frequent haplotype 4 allele mutation. Hum Genet 84, 95–96 (1989). https://doi.org/10.1007/BF00210683
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DOI: https://doi.org/10.1007/BF00210683