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Article

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.

Molecular genetics and metabolism - 1 Aug 2010

Dobrowolski Steven F, Andersen Henriette S, Doktor Thomas K, Andresen Brage S

Abstract excerpt

PKU is caused by mutations in PAH. A c.30C>G synonymous variation in exon 1, previously reported as neutral, was observed in two patients. The variation creates a GGG triplet, which is part of several exonic splicing silencer (ESS) motifs. Because the 5'-splice site of PAH exon 1 is intrinsically...

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Source

Identifiers

PMID: 20457534
DOI: 10.1016/j.ymgme.2010.04.002

Genes

PAH
HEXB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20457534-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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