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Article

[Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation].

Casopis lekaru ceskych - 14 Jun 1995

Kozák L, Kuhrová V, Blazková M, Fajkusová L, Dvoráková D, Pijácková A

Abstract excerpt

BACKGROUND: Phenylketonuria is as regards the genotype a very heterogenous disease. Successful prenatal and postnatal DNA diagnosis calls for knowledge of different mutations in a given population. The objective of the investigation was to introduce direct detection of 21 mutations in the gene for phenylalanine hydroxylase and to find the distribution and frequency of these mutations in the population of northern...

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Share to PAH gene
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Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Neonatal Screening

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Source

Identifiers

PMID: 7553743

Genes

PAH

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.

Related research

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[Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation].PMID 7553743Read ↗

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Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.Semantic proximity Read ↗

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Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.Semantic proximity Read ↗

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[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].Semantic proximity Read ↗

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