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Article

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

Molecular genetics and metabolism - 1 Aug 2012

Heintz Caroline, Dobrowolski Steven F, Andersen Henriette Skovgaard, Demirkol Mübeccel, Blau Nenad, Andresen Brage Storstein

Abstract excerpt

In about 20-30% of phenylketonuria (PKU) patients, phenylalanine (Phe) levels can be controlled by cofactor 6R-tetrahydrobiopterin (BH(4)) administration. The phenylalanine hydroxylase (PAH) genotype has a predictive value concerning BH(4)-response and therefore a correct assessment of the mutation molecular pathology is important. Mutations that disturb the splicing of exons (e.g. interplay between splice site...

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Source

Identifiers

PMID: 22698810
DOI: 10.1016/j.ymgme.2012.05.013

Genes

PAH

Variants

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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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Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.PMID 22698810Read ↗

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