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Article

Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations.

FEBS letters - 3 Sept 1999

Ellingsen S, Knappskog P M, Apold J, Eiken H G

Abstract excerpt

The majority of mutations in the human phenylalanine hydroxylase (PAH) gene that lead to the recessive disease phenylketonuria (PKU) are believed to affect the activity or stability of the PAH enzyme. In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X. The mutations...

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Share to Homozygote
Share to Lymphocytes
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA Splicing

Share to Transcription, Genetic

Source

Identifiers

PMID: 10471838
DOI: 10.1016/s0014-5793(99)01095-9

Genes

PAH

Variants

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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