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Article

Functional analysis of six uncharacterised mutations in LDLR gene.

Atherosclerosis - 1 Dec 2019

Gomez Andrea, Colombo Roberto, Pontoglio Alessandro, Helman Lorena, Kaeser Luciana, Giunta Gustavo, Parolin Maria L, Toscanini Ulises, Cuniberti Luis

Abstract excerpt

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a primary hyperlipemia. It is an autosomal dominant genetic disorder of lipoproteins metabolism mainly caused by mutations in the low density lipoprotein receptor gene (LDLR). We aimed to investigate the functional impact on the low density lipoprotein receptor (LDLR) activity of six uncharacterised variants located in the coding region of the LDLR gene,...

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Identifiers

PMID: 31689621
DOI: 10.1016/j.atherosclerosis.2019.10.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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