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Article

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.

European journal of human genetics : EJHG - 1 Jan 1998

Carter K C, Byck S, Waters P J, Richards B, Nowacki P M, Laframboise R, Lambert M, Treacy E, Scriver C R

Abstract excerpt

We describe variation at the PAH locus in the population of Quebec. We successfully analyzed 135 of 141 chromosomes from phenylketonuria (PKU) probands (95.7% of the sample), and eight additional chromosomes from a small number of probands with non-PKU hyperphenylalaninemia (HPA). The full set of chromosomes harboured 45 different PAH mutations: i) seven polymorphisms (IVS2nt19, IVS3nt-22, IVS6nt-55, Q232Q,...

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Source

Identifiers

PMID: 9781015
DOI: 10.1038/sj.ejhg.5200153

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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