Format

Send to

Choose Destination
Hum Mutat. 1992;1(6):445-66.

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

Author information

1
Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235.

Abstract

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 (FH). Affected individuals have elevated plasma levels of LDL, which causes premature coronary atherosclerosis. To date, 71 mutations in the LDL receptor gene have been characterized at a molecular level. In this report, we describe 79 additional mutations and review the insights that all 150 mutations have provided into the structure/function relationship of the receptor protein and the clinical manifestations of FH.

PMID:
1301956
DOI:
10.1002/humu.1380010602
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center