Article
Familial hypercholesterolemia in French-Canadians: taking advantage of the presence of a "founder effect".
The American journal of cardiology - 30 Sept 1993
Davignon J, Roy M
Abstract excerpt
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...
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