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Article

Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians.

Human genetics - 1 Mar 1992

Bétard C, Kessling A M, Roy M, Chamberland A, Lussier-Cacan S, Davignon J

Abstract excerpt

Familial hypercholesterolemia (FH), at a prevalence of about 1 in 200 in the French-Canadian population, is caused by a 10-kb deletion in the low-density lipoprotein (LDL) receptor gene in 60% of French-Canadian FH heterozygotes. We genotyped 159 FH patients who carry this common mutation and 221 healthy French-Canadian controls for five DNA restriction fragment length polymorphisms (RFLPs) of the LDL receptor...

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Identifiers

PMID: 1348044
DOI: 10.1007/BF00219339

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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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