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Article

Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).

Clinical research in cardiology supplements - 1 Jun 2012

Schaefer Juergen R, Kurt Bilgen, Sattler Alexander, Klaus Günter, Soufi Muhidien

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 a high risk of premature myocardial infarction. In general, mutations within LDLR gene can cause five different classes of defects, namely: class I defect: no LDLR...

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Identifiers

PMID: 22528129
DOI: 10.1007/s11789-012-0041-y
PMCID: PMC3374117

Genes

LDLR

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