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Article

Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.

Human genetics - 1 Nov 1991

Zygulska M, Eigel A, Dworniczak B, Sutkowska A, Pietrzyk J J, Horst J

Abstract excerpt

In order to investigate the molecular basis of phenylketonuria (PKU) in the Polish population, we screened 44 mutant chromosomes from PKU probands for six known mutations, frequently occurring in western European countries, by polymerase chain reaction amplification of their genomic DNA and hybridization with allele-specific oligonucleotides. Our results show that the majority (66%) of all PKU alleles are...

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PMID: 1683647
DOI: 10.1007/BF00204935

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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