Personne : Labrie, Fernand
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Labrie
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Fernand
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Département de médecine moléculaire, Faculté de médecine, Université Laval
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Publication Restreint Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians(Wiley-Liss, 1995-03-01) Simard, Jacques; Labrie, Fernand; Moorjani, Sital; Lupien, Paul-J.; Torres, Ana Lucia; Vohl, Marie-Claude; Gagné, Claude; Després, Jean-Pierre; Couture, PatrickFamilial hypercholesterolemia (FH) has an estimated frequency of 1:154 among French Canadians in Northeastern Quebec, compared with 1:500 in most other populations. FH is caused by numerous mutations of the low-density lipoprotein (LDL) receptor gene, but only six well-characterized mutations are known to cause FH in French Canadians. High prevalence of the phenotype, along with a limited number of mutations in this population, provides a unique opportunity to study genotype-phenotype variation. Since the current methods for detection of point mutations in this population use complicated approaches, we report polymerase chain reaction (PCR)-based restriction fragment analysis to detect all four point mutations. This approach provides a rapid diagnosis and is suitable to screen large number of samples for studies in genetic epidemiology; it should be useful in identifying FH in other populations bearing the same mutations.Publication Restreint Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians(Wiley-Liss, 2011-04-28) Simard, Jacques; Labrie, Fernand; Gagné, Claude; Lupien, Paul-J.; Gaudet, Daniel; Torres, Ana Lucia; Vohl, Marie-Claude; Després, Jean-Pierre; Couture, Patrick; Moorjani, SitalPublication Restreint Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing heterozygous familial hypercholesterolemia among French Canadians(Oxford University Press, 1994-09-01) Simard, Jacques; Moorjani, Sital; Labrie, Fernand; Lupien, Paul-J.; Vohl, Marie-Claude; Torres, Ana Lucia; Després, Jean-Pierre; Gagné, Claude; Couture, Patrick