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Article

Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population.

Journal of clinical lipidology - 1 Jan 2000

Sánchez Andrea, Bustos Paulina, Honorato Paula, Burgos Carlos F, Barriga Natalia, Jannes Cinthia E, Sáez Katia, Alonso Rodrigo, Asenjo Sylvia, Radojkovic Claudia

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder mainly caused by mutations in the LDL receptor (LDL-R) and characterized by elevation of low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease. OBJECTIVE: In this study, we evaluated the clinical phenotype of the p.Asp47Asn, described as an uncertain pathogenic variant, and its effect on the structure of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33547002
DOI: 10.1016/j.jacl.2021.01.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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