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Article

Mutations in the phenylalanine hydroxylase gene: methods for their characterization.

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994

Guldberg P, Güttler F

Abstract excerpt

Mutations in the phenylalanine hydroxylase (PAH) gene represent the root cause of PAH-deficient hyperphenylalaninemia. To date, more than 160 different mutations have been reported. Single-base substitutions and microdeletions account for the majority of molecular defects. This review provides a brief general introduction to various strategies for detection of PAH mutations, and summarizes our own methodological...

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Share to Electrophoresis, Polyacrylamide Gel

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Infant, Newborn

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Source

Identifiers

PMID: 7766950
DOI: 10.1111/j.1651-2227.1994.tb13443.x

Genes

PAH

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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