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Article

[Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].

Casopis lekaru ceskych - 7 May 1997

Růzicková S, Kozák L, Blazková M, Kapras J, St'astná S

Abstract excerpt

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive, disease, heterogeneous at the molecular level, caused by mutations in the gene of phenylalanine hydroxylase (PAH). The objective of the present work was to identify mutations and their frequency in the Central Bohemian and Prague population in relation to the clinical phenotype. METHODS AND RESULTS: The authors analyzed a group of 33 patients from 32...

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Identifiers

PMID: 9264877

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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