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Article

Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

American journal of human genetics - 1 Aug 1994

Rozen R, Mascisch A, Lambert M, Laframboise R, Scriver C R

Abstract excerpt

Independent phenylketonuria (PKU) chromosomes (n = 109) representing 80% of a proband cohort in Quebec province carry 18 different identified mutations in 20 different mutation/haplotype combinations. The study reported here, the third in a series on Quebec populations, was done in the Montreal region and predominantly on French Canadians. It has identified three novel mutations (A309D, D338Y, and...

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Identifiers

PMID: 7913581
PMCID: PMC1918360

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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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