Article
ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies.
Journal of lipid research - 1 Jul 1992
Krul E S, Parhofer K G, Barrett P H, Wagner R D, Schonfeld G
Abstract excerpt
We have identified a mutation of apolipoprotein B (apoB) in a kindred with hypobetalipoproteinemia. Four affected members had plasma concentrations of total cholesterol of 115 +/- 14, low density lipoprotein (LDL)-C of 48 +/- 11, and apoB of 28 +/- 9 (mg/dl mean +/- SD). The values correspond to...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Apolipoprotein B-100
- Apolipoproteins B
- Base Sequence
- Blotting, Western
- Cells, Cultured
- Child
- DNA
- Female
- Humans
- Hypobetalipoproteinemias
- Kinetics
- Lipoproteins, LDL
- Male
- Middle Aged
- Molecular Sequence Data
