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Article

A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria.

Human genetics - 1 Jan 2001

Chao H K, Hsiao K J, Su T S

Abstract excerpt

An A-->T substitution in cDNA nucleotide 1197 (c.1197A/T) of the human phenylalanine hydroxylase (PAH) gene has been regarded as a silent mutation, because both the wild-type (GUA) and the mutant (GUU) alleles encode a valine residue at codon 399 (V399 V). The nucleotide c.1197 is located at the 3'-end of exon 11at position -3 of the exon-intron junction. To explore whether the substitution exerts any effects on...

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Identifiers

PMID: 11214902
DOI: 10.1007/s004390000435

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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