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Article

Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.

Journal of clinical lipidology - 1 Jan 2000

Hernández Flores Teresita De Jesús, González García Juan Ramón, Colima Fausto Ana Gabriela, Vázquez Cárdenas Norma Alejandra, Sánchez López Yoaly, Zarate Morales César Augusto, Magaña Torres María Teresa

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disorder that causes accumulation of serum low-density lipoprotein cholesterol and premature cardiovascular disease. It is mainly related to mutations in the LDLR gene. Homozygous FH (HoFH) patients have the most severe form of the disease accounting for a worldwide prevalence of 1:1,000,000. In Mexico, at least 5 cases of HoFH have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29576406
DOI: 10.1016/j.jacl.2018.02.015

Genes

LDLR
APOB

Variants

Provenance

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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