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Article

Two novel PAH gene mutations detected in Italian phenylketonuric patients.

Human genetics - 1 Feb 1997

Argiolas A, Bosco P, Calì F, Ceratto N, Anello G, Riva E, Biasucci G, Carducci C, Romano V

Abstract excerpt

We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients. Interestingly, mutation Y204C, found on the second mutant allele of family F1, has been previously detected in Chinese patients. Haplotype analysis showed that the...

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Identifiers

PMID: 9048935
DOI: 10.1007/s004390050353

Genes

PAH

Variants

Provenance

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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