Published Online: 25 APR 2001
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Fisher, C., Bernstein, B. E. and Blacklow, S. C. 2001. Familial Hypercholesterolaemia. eLS. .
- Published Online: 25 APR 2001
Familial hypercholesterolaemia is a genetic disease, resulting from mutation of the low-density lipoprotein (LDL) receptor, that is characterized clinically by elevation of LDL cholesterol in the blood and premature atherosclerosis.
- LDL receptor;
- low-density lipoprotein;
- genetic disease;
- autosomal dominant;
- tendon xanthoma;
- receptor-mediated endocytosis