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Article

LDL-receptor mutations in Europe.

Human mutation - 1 Dec 2004

Dedoussis George V Z, Schmidt Hartmut, Genschel Janine

Abstract excerpt

Familial hypercholesterolemia (FH) is a clinical definition for a remarkable increase of cholesterol serum concentration, presence of xanthomas, and an autosomal dominant trait of either increased serum cholesterol or premature coronary artery disease (CAD). The identification of the low-density lipoprotein (LDL)-receptor (LDLR) as the underlying cause and its genetic characterization in FH patients revealed more...

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Promoter Regions, Genetic
Receptors, LDL
Europe
Founder Effect
Genetic Testing
Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15523646
DOI: 10.1002/humu.20105

Genes

LDLR
APOB
CAD
PCSK9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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