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Article

APOE p.Leu167del mutation in familial hypercholesterolemia.

Atherosclerosis - 1 Dec 2013

Awan Zuhier, Choi Hong Y, Stitziel Nathan, Ruel Isabelle, Bamimore Mary Aderayo, Husa Regina, Gagnon Marie-Helene, Wang Rui-Hao L, Peloso Gina M, Hegele Robert A, Seidah Nabil G, Kathiresan Sekar, Genest Jacques

Abstract excerpt

BACKGROUND: Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the low density lipoprotein receptor (LDLR), its ligand apoB (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Yet DNA sequencing does not identify mutations in these genes in a significant number of cases, suggesting that ADH has multiple genetic etiologies. METHODS: Through a combination of clinical...

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Topics

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Share to Apolipoproteins B
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Leucine

Share to Proprotein Convertase 9

Share to Proprotein Convertases

Share to Receptors, LDL

Share to Xanthomatosis

Source

Identifiers

PMID: 24267230
DOI: 10.1016/j.atherosclerosis.2013.09.007

Genes

APOE
APOB
LDLR
PCSK9
LDLRAP1

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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