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Article

New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.

Journal of applied genetics - 1 Feb 2017

Klaassen Kristel, Stankovic Biljana, Kotur Nikola, Djordjevic Maja, Zukic Branka, Nikcevic Gordana, Ugrin Milena, Spasovski Vesna, Srzentic Sanja, Pavlovic Sonja, Stojiljkovic Maja

Abstract excerpt

Phenylketonuria (PKU) is a metabolic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Although the PAH genotype remains the main determinant of PKU phenotype severity, genotype-phenotype inconsistencies have been reported. In this study, we focused on unanalysed sequences in non-coding PAH gene regions to assess their possible influence on the PKU phenotype. We transiently transfected...

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Identifiers

PMID: 27447460
DOI: 10.1007/s13353-016-0359-0

Genes

PAH
KLF1
CAT

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.

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