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Article

APOE p.(Leu167del) variant in hypercholesterolemia: Prevalence & phenotypic expression.

Journal of clinical lipidology - 1 Jan 2025

Bello-Álvarez Daniel, Cenarro Ana, Bea Ana M, Marco-Benedí Victoria, Jarauta Estíbaliz, Ortiz-Palma Pedro, Ortega Emilio, González-Lleó Ana M, Civeira Fernando

Abstract excerpt

BACKGROUND: The APOE p.(Leu167del) variant has been identified as a rare cause of autosomal dominant hypercholesterolemia. A comprehensive phenotypic profile of carriers remains undefined, and its frequency has not been systematically studied. OBJECTIVE: To characterize the phenotypic differences between p.(Leu167del) carriers among individuals with primary hypercholesterolemia and those with familial...

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Topics

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Share to Apolipoproteins E
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41198423
DOI: 10.1016/j.jacl.2025.09.016

Genes

FH
APOE
APOB
LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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