Article
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
Human mutation - 1 Jan 1992
Hobbs H H, Brown M S, Goldstein J L
Abstract excerpt
The low density lipoprotein (LDL) receptor is a cell surface transmembrane protein that mediates the uptake and lysosomal degradation of plasma LDL, thereby providing cholesterol to cells. Mutations disrupting the function of this receptor produce autosomal dominant familial hypercholesterolemia...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA Mutational Analysis
- Humans
- Hyperlipoproteinemia Type II
- Molecular Biology
- Molecular Sequence Data
- Receptors, LDL