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Article

Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

Gene - 10 Sept 2013

Polak Emil, Ficek Andrej, Radvanszky Jan, Soltysova Andrea, Urge Otto, Cmelova Eleonora, Kantarska Dana, Kadasi Ludevit

Abstract excerpt

We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 135 Slovak PKU families. Mutational screening of the known coding region, including conventional intron splice sites, was performed using high-resolution melting analysis, with subsequent sequencing analysis of the samples showing deviated melting profiles compared to control samples. The PAH gene was...

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Identifiers

PMID: 23764561
DOI: 10.1016/j.gene.2013.05.057

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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