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Article

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

Human genetics - 1 Nov 1990

Dianzani I, Devoto M, Camaschella C, Saglio G, Ferrero G B, Cerone R, Romano C, Romeo G, Giovannini M, Riva E

Abstract excerpt

In order to investigate the molecular basis of phenylketonuria (PKU) in Italy, we characterized the RFLP haplotypes at the phenylalanine hydroxylase gene in 38 unrelated Italian PKU families. The distribution of haplotypes associated with PKU alleles differs from that of other European populations. In particular, haplotypes 1 and 6 are present in 39.7% and 17.6% of the PKU chromosomes, whereas the frequencies of...

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PMID: 1979309
DOI: 10.1007/BF00205176

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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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