Article
Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146----gln) variant results in a dominant mode of inheritance.
Journal of lipid research - 1 Jan 1990
Smit M, de Knijff P, van der Kooij-Meijs E, Groenendijk C, van den Maagdenberg A M, Gevers Leuven J A, Stalenhoef A F, Stuyt P M, Frants R R, Havekes L M
Abstract excerpt
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 develo...
Topics
- Alleles
- Amino Acid Sequence
- Apolipoprotein E2
- Apolipoproteins E
- Base Sequence
- DNA
- Female
- Genes, Dominant
- Genetic Variation
- Genotype
- Homozygote
- Humans
- Hyperlipoproteinemia Type III
- Male
- Molecular Sequence Data
- Pedigree