Article
A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia.
Journal of lipid research - 1 Apr 1992
Farese R V, Garg A, Pierotti V R, Vega G L, Young S G
Abstract excerpt
Familial hypobetalipoproteinemia, a syndrome associated with low plasma cholesterol levels, can be caused by apoB gene mutations. We identified a healthy 42-year-old man whose total plasma cholesterol level was 80 mg/dl. His plasma very low density lipoprotein (VLDL) contained a unique truncated...
Topics
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Apolipoproteins B
- Base Sequence
- Blotting, Western
- DNA
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Female
- Humans
- Hypobetalipoproteinemias
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree