Article
Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2).
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Nov 1994
Groenewegen W A, Krul E S, Averna M R, Pulai J, Schonfeld G
Abstract excerpt
We identified the first insertion mutation that specifies an apolipoprotein (apo)B truncation, apoB-70.5, in a father and son with hypobetalipoproteinemia (total and low-density lipoprotein [LDL] cholesterol < 5th percentile, plasma apoB levels approximately one third of normal). The mutation is...
Topics
- Adult
- Aged
- Apolipoproteins B
- Apolipoproteins E
- Base Sequence
- Female
- Genes
- Humans
- Hyperlipoproteinemia Type III
- Hypobetalipoproteinemias
- Lipids
- Male
- Middle Aged
- Molecular Probes
- Molecular Sequence Data
- Mutation