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Article

Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR).

Atherosclerosis - 1 Oct 2020

Rodríguez-Nóvoa Sonia, Rodríguez-Jiménez Carmen, Alonso Concepción, Rodriguez-Laguna Lara, Gordo Gema, Martinez-Glez Victor, García Polo Iluminada

Abstract excerpt

BACKGROUND AND AIMS: Familial hypercholesterolemia is most frequently caused by genetic variants in the LDLR gene. Most of LDLR pathogenic variants are missense, followed by splicing and deletion/insertions variants. Mosaicism is a genetic condition in which an individual shows more than one clone of cells with different genotypes. The objective of this article was the molecular characterization of a patient with...

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PMID: 32937241
DOI: 10.1016/j.atherosclerosis.2020.08.002

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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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