Article
Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency.
Journal of lipid research - 1 Mar 1996
Bijvoet S, Gagné S E, Moorjani S, Gagné C, Henderson H E, Fruchart J C, Dallongeville J, Alaupovic P, Prins M, Kastelein J J, Hayden M R
Abstract excerpt
We have assessed the expression of heterozygosity for lipoprotein lipase (LPL) deficiency by studying a single large French Canadian family comprising 92 persons including 21 carriers of the catalytically defective P207L mutation. Phenotypic changes distinguishing heterozygotes from controls were seen early, before the age of 40 and often before 20 years of age. In the total cohort these changes included an...
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