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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 different mutation/H/VNTR haplotype combinations on the 50 PKU chromosomes: one set of 5 and another of 8 accounted for 88...

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Source

Identifiers

PMID: 7913864
DOI: 10.1159/000472415

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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