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  1. Familial hypercholesterolemia in French-Canadians : taking advantage of the presence of a "founder effect".

    Article, Congrès - En anglais

    Identification and management of heterozygous familial hypercholesterolemia. Workshop. USA, 1992/07/20.

    The frequency of familial hypercholesterolemia (FH) in the province of Quebec is twice that observed in most population samples.

    In the French-Canadian population, 5 mutations in the low density lipoprotein (LDL) receptor gene account for 76% of FH cases diagnosed using clinical and biochemical criteria.

    One of these mutations, a >10 kilobase (kb) deletion at the 5' end of the gene involving the promoter and exon 1, is present in 60% of FH patients studied in Montréal.

    This high frequency is attribuate to a « founder effect ».

    Mots-clés Pascal : Hypercholestérolémie, Maladie héréditaire, Homme, Canadien français, Etude familiale, Epidémiologie, Lipide, Cholestérol, Métabolisme pathologie, Hyperlipoprotéinémie, Effet fondateur

    Mots-clés Pascal anglais : Hypercholesterolemia, Genetic disease, Human, French canadian, Family study, Epidemiology, Lipids, Cholesterol, Metabolic diseases, Hyperlipoproteinemia

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    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 94-0026611

    Code Inist : 002B22A. Création : 199406.