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Functional characterization and classification of frequent low-density lipoprotein receptor variants.

Human mutation - 1 Jan 2015

Etxebarria Aitor, Benito-Vicente Asier, Palacios Lourdes, Stef Marianne, Cenarro Ana, Civeira Fernando, Ostolaza Helena, Martin Cesar

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal-dominant disorder mostly caused by mutations in the low-density lipoprotein receptor (LDLR) gene leading to increased risk for premature cardiovascular diseases. According to functional studies, LDLR mutations may be classified into five classes. The main objective of this study was to characterize seven LDLR variants previously detected in FH patients. Analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25378237
DOI: 10.1002/humu.22721

Genes

LDLR

Variants

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