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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 (FH). Affected individuals have elevated plasma levels of LDL, which causes premature coronary atherosclerosis. To...

Read the complete abstract on PubMed

Topics

Alleles
Amino Acid Sequence
Base Sequence
DNA
DNA Mutational Analysis
Humans
Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Molecular Biology

Molecular Sequence Data

Receptors, LDL

Source

Identifiers

PMID: 1301956
DOI: 10.1002/humu.1380010602

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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