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Article

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

Atherosclerosis - 1 Feb 2015

Etxebarria A, Benito-Vicente A, Stef M, Ostolaza H, Palacios L, Martin C

Abstract excerpt

BACKGROUND: The LDL receptor (LDLR) is a Class I transmembrane protein critical for the clearance of cholesterol-containing lipoprotein particles. The N-terminal domain of the LDLR harbours the ligand-binding domain consisting of seven cysteine-rich repeats of approximately 40 amino acids each. Mutations in the LDLR binding domain may result in loss of receptor activity leading to familial hypercholesterolemia...

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

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Source

Identifiers

PMID: 25545329
DOI: 10.1016/j.atherosclerosis.2014.12.026

Genes

LDLR

Variants

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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