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. 1989 Dec;84(1):95-6.
doi: 10.1007/BF00210683.

Phenylketonuria: detection of a frequent haplotype 4 allele mutation

B Dworniczak  1 , C Aulehla-Scholz, J Horst
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Phenylketonuria: detection of a frequent haplotype 4 allele mutation

B Dworniczak et al. Hum Genet. 1989 Dec.

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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References

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