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Article

Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.

European journal of human genetics : EJHG - 1 Jan 1993

Svensson E, Wang Y, Eisensmith R C, Hagenfeldt L, Woo S L

Abstract excerpt

The proximal promoter region of the human phenylalanine hydroxylase (PAH) gene was analyzed for the presence of mutations in 122 European phenylketonuria (PKU) and hyperphenylalaninemia patients having altogether 187 uncharacterized mutant PAH alleles. This promoter fragment, which contained the most 5' transcription start site and about 300 bp upstream, was sequenced directly from...

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Source

Identifiers

PMID: 8081944
DOI: 10.1159/000472429

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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