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Article

Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity.

Journal of clinical lipidology - 1 Jan 2000

Magaña Torres María Teresa, Mora-Hernández Samantha, Vázquez Cárdenas Norma Alejandra, González Jaimes Armando

Abstract excerpt

Familial hypercholesterolemia (FH) is a world public health issue because of its high frequency, morbidity, and mortality. FH is characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C) levels and a high risk for premature cardiovascular disease. We report an 8-year-old male with homozygous familial hypercholesterolemia. The clinical and biochemical characteristics of this case were bilateral...

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

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Source

Identifiers

PMID: 25234566
DOI: 10.1016/j.jacl.2014.05.002

Genes

LDLR

Variants

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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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