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Article

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Clinical genetics - 1 Sept 2016

Bayat A, Yasmeen S, Lund A, Nielsen J B, Møller L B

Abstract excerpt

We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in the cohort. The most frequent mutation c.1315+1G>A (IVS12+1G>A) was found on 25.80% of the 744 alleles. Other very...

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PMID: 26542770
DOI: 10.1111/cge.12692

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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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