Article
Identification and molecular analysis of two apoB gene mutations causing low plasma cholesterol levels.
Circulation - 15 Oct 1995
Welty F K, Ordovas J, Schaefer E J, Wilson P W, Young S G
Abstract excerpt
BACKGROUND: Familial hypobetalipoproteinemia (FHB) is an autosomal codominant disorder characterized by abnormally low plasma levels of apoB and LDL cholesterol. Heterozygotes for FHB almost always have plasma LDL cholesterol levels < 70 mg/dL and are asymptomatic. Because the low cholesterol levels may protect FHB heterozygotes from coronary heart disease, the mechanisms for FHB are of considerable interest....
Topics
- Apolipoproteins B
- Base Sequence
- Child
- Cholesterol, LDL
- DNA Mutational Analysis
- Female
- Frameshift Mutation
- Haplotypes
- Heterozygote
- Humans
- Hypobetalipoproteinemias