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Article

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

Journal of medical genetics - 1 Nov 1997

Kozák L, Blazková M, Kuhrová V, Pijácková A, Růzicková S, St'astná S

Abstract excerpt

Mutations, haplotypes, and other polymorphic markers in the phenylalanine hydroxylase (PAH) gene were analysed in 133 unrelated Czech families with classical phenylketonuria (PKU). Almost 95% of all mutant alleles were identified, using a combination of PCR and restriction analysis, denaturing gr...

Topics

Alleles
Czech Republic
DNA Mutational Analysis
Genetic Markers
Genotype
Haplotypes
Humans
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

PMID: 9391881
DOI: 10.1136/jmg.34.11.893
PMCID: PMC1051115

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9391881-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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