'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province.

doi:10.1159/000472415

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Article

'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province.

European journal of human genetics : EJHG - 1 Jan 1993

Treacy E, Byck S, Clow C, Scriver C R

Abstract excerpt

We analyzed mutations, RFLP haplotypes (H), and a VNTR polymorphism at the phenylalanine hydroxylase locus (PAH) in 12 French-Canadian patients with phenylketonuria (PKU) from the eastern region of Quebec province and 13 non-French-Canadian PKU patients from the Montreal region. There were 10 dif...

Topics

Chromosomes, Human, Pair 12
DNA Mutational Analysis
Ethnicity
France
Gene Frequency
Genetics, Population
Haplotypes
Humans
Ireland
Molecular Epidemiology
Mutation
New Brunswick

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenylalanine Hydroxylase

Phenylketonurias

Polymorphism, Restriction Fragment Length

Quebec

Repetitive Sequences, Nucleic Acid

Scotland

Source

Open in PubMed

Identifiers

PMID: 7913864
DOI: 10.1159/000472415

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7913864-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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