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Article

Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.

Human heredity - 1 Jan 2001

Giannattasio S, Dianzani I, Lattanzio P, Spada M, Romano V, Calì F, Andria G, Ponzone A, Marra E, Piazza A

Abstract excerpt

Molecular analysis of 289 chromosomes has been performed in a cohort of phenylketonuria (PKU) patients whose ancestors lived in five Italian regions, Calabria, Campania, Piemonte, Puglia/Basilicata and Sicilia. Phenylalaninehydroxylase (PAH) gene mutations and minihaplotypes (combinations of PAH gene STR and VNTR systems) have been determined for 78.5 and 64%, respectively, of the chromosomes studied. 21...

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Source

Identifiers

PMID: 11588399
DOI: 10.1159/000053371

Genes

PAH

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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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