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Article

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.

Human mutation - 1 Jan 1996

Eiken H G, Knappskog P M, Apold J, Flatmark T

Abstract excerpt

The G46S mutation in the phenylalanine hydroxylase (PAH) gene was identified by fluorescence-based single-strand conformation polymorphism (F-SSCP) analysis on phenylketonuria (PKU) haplotype 5.9 alleles. DNA sequencing of PAH exon 2 revealed a G-to-A transition in cDNA position 136. G46S mutations were present on 17 of 236 Norwegian PKU alleles (7.2%) and on 8 of 176 Swedish PKU alleles (4.5%). Analysis of all...

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Source

Identifiers

PMID: 8829656
DOI: 10.1002/(SICI)1098-1004(1996)7:3<228::AID-HUMU7>3.0.CO;2-6

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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PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.PMID 8829656Read ↗

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