Article
Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.
Human mutation - 1 Jan 1997
Assouline L, Leitersdorf E, Lambert M, Reshef A, Feoli-Fonseca J C, Levy E
Abstract excerpt
Familial hypercholesterolemia (FH) is at least twofold more prevalent in French Canadians from Québec than in most Western populations. Although our recent data confirmed this high frequency of heterozygous FH in our pediatric population with hypercholesterolemia, none of the five established molecular defects for the French-Canadian population was detected in 29% of the unrelated French-Canadian children...
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