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Article

Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.

Atherosclerosis - 1 Oct 2011

Vaca Gerardo, Vàzquez Alejandra, Magaña Marìa Teresa, Ramìrez Marìa Lourdes, Dàvalos Ingrid P, Martìnez Esperanza, Marìn Bertha, Carrillo Gabriela

Abstract excerpt

The goal of this project was to identify families with autosomal dominant hypercholesterolemia (ADH) to facilitate early detection and treatment and to provide genetic counselling as well as to approximate the mutational diversity of ADH in Mexico. Mutational analysis of the LDLR and APOB genes in 62 index cases with a clinical and/or biochemical diagnosis of ADH was performed. Twenty-five mutations (24 LDLR, 1...

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Topics

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Share to Anticholesteremic Agents
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hyperlipoproteinemia Type II

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Source

Identifiers

PMID: 21722902
DOI: 10.1016/j.atherosclerosis.2011.06.006

Genes

APOB
LDLR
PCSK9

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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