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Article

Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R.

Atherosclerosis. Supplements - 29 Dec 2009

Soufi Muhidien, Kurt Bilgen, Schweer Horst, Sattler Alexander M, Klaus Günter, Zschocke Johannes, Schaefer Juergen R

Abstract excerpt

OBJECTIVE: Familial hypercholesterolemia (FH) is an autosomal dominant inherited disorder, caused by mutations in the low density lipoprotein receptor (LDLR) gene. FH is characterized by elevated plasma LDL cholesterol, premature atherosclerosis and high risk of premature myocardial infarction. E...

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Share to Apolipoproteins
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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: 20129366
DOI: 10.1016/S1567-5688(09)71802-1

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20129366-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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