Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 popula...

Topics

Alleles
Czech Republic
Gene Frequency
Humans
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9264877

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9264877-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].PMID 9264877Read ↗

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

[Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria].Semantic proximity Read ↗

[Analysis of mutations and VNTR-polymorphism in the phenylalanine hydroxylase gene].Semantic proximity Read ↗

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].Semantic proximity Read ↗

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

[Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].Semantic proximity Read ↗

[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families].Semantic proximity Read ↗

[Molecular genetic aspects of phenylketonuria (PKU)].Semantic proximity Read ↗

Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuriaSemantic proximity Read ↗

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.Semantic proximity Read ↗

Genetic background of clinical homogeneity of phenylketonuria in Poland.Semantic proximity Read ↗

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.