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Article

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

Human mutation - 1 Apr 2003

Pey Angel L, Desviat Lourdes R, Gámez Alejandra, Ugarte Magdalena, Pérez Belén

Abstract excerpt

When analyzed in the context of the phenylalanine hydroxylase (PAH) three-dimensional structure, only a minority of the PKU mutations described world-wide affect catalytic residues. Consistent with these observations, recent data point to defective folding and subsequent aggregation/degradation as a predominant disease mechanism for several mutations. In this work, we use a combined approach of expression in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12655546
DOI: 10.1002/humu.10198

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.PMID 12655546Read ↗

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