Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

Author:

Faivre Laurence,Saugier-Veber Pascale,Pais de Barros Jean-Paul,Verges Bruno,Couret Bertrand,Lorcerie Bernard,Thauvin Christel,Charbonnier Françoise,Huet Frédéric,Gambert Philippe,Frebourg Thierry,Duvillard Laurence

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference7 articles.

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3. Nguyen TT, Kruckeberg KE, O'Brien JF et al: Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation (apolipoprotein E (delta149 Leu)). J Clin Endocrinol Metab 2000; 85: 4354–4358.

4. Mahley RW : Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 1988; 240: 622–630.

5. Mahley RW, Rall SC : Type III hyperlipoproteinemia; in Betteridge DJ, Illingworth DR, Sheperd J (eds): Lipoproteins in Health and Diseases. New York: Arnold, 1999, pp 719–736.

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