Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146—-gln) variant results in a dominant mode of inheritance.

As determined by isoelectric focusing, most patients with familial dysbetalipoproteinemia (FD) exhibit the homozygous apolipoprotein (apo) E2E2 phenotype. Only rarely does FD develop in the more common heterozygous phenotypes E3E2 or E4E2. In fact, only 1 to 4% of the E2E2 homozygotes will develop F...

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Bibliographic Details
Main Authors: M Smit, P de Knijff, E van der Kooij-Meijs, C Groenendijk, AM van den Maagdenberg, JA Gevers Leuven, AF Stalenhoef, PM Stuyt, RR Frants, LM Havekes
Format: Article
Language:English
Published: Elsevier 1990-01-01
Series:Journal of Lipid Research
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520427592