A Mutation in the Human Lipoprotein Lipase Gene as the Most Common Cause of Familial Chylomicronemia in French Canadians

Abstract : Lipoprotein lipase hydrolyzes the triglyceride core of chylomicrons and very-low-density lipoproteins and has a crucial role in regulating plasma lipoprotein levels. Deficiencies of lipoprotein lipase activity lead to aberrations in lipoprotein levels. Worldwide, the frequency of lipoprotein lipase deficiency is highest among French Canadians. We sought to determine the molecular basis of the disorder in this population.
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https://hal.archives-ouvertes.fr/hal-02160241
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Submitted on : Wednesday, June 19, 2019 - 2:29:11 PM
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Y. Ma, Howard Henderson, V Murthy, Ghislaine Roederer, M. Monsalve, et al.. A Mutation in the Human Lipoprotein Lipase Gene as the Most Common Cause of Familial Chylomicronemia in French Canadians. New England Journal of Medicine, Massachusetts Medical Society, 1991, 324 (25), pp.1761-1766. ⟨10.1056/NEJM199106203242502⟩. ⟨hal-02160241⟩

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