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Article

Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.

Journal of medical genetics - 1 Feb 2015

Fouchier Sigrid W, Hutten Barbara A, Defesche Joep C

Abstract excerpt

AIMS: Autosomal-dominant hypercholesterolaemia (ADH) is a heterogeneous common disorder, and uncovering the molecular determinants that underlie ADH is a major focus of cardiovascular research. However, despite rapid technical advances, efforts to identify novel ADH genes have yet not been very successful and are largely challenged by phenotypic and genetic heterogeneity of this disease. We aimed to investigate...

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Topics

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Share to Apolipoproteins B
Share to Cholesterol, LDL
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Hyperlipoproteinemia Type II

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Share to Receptors, LDL

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Source

Identifiers

PMID: 25412742
DOI: 10.1136/jmedgenet-2014-102653

Genes

LDLR
APOB

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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