Article
New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis.
Journal of inherited metabolic disease - 1 Jan 2004
Francová H, Trbusek M, Zapletalová P, Kuhrová V
Abstract excerpt
Low-density lipoprotein receptor (LDLR) is a cell-surface glycoprotein that mediates specific uptake and catabolism of plasma LDL. Mutations located in the coding region of the LDLR gene affect the structure and function of the protein and cause familial hypercholesterolaemia (FH). Mutations in the regulatory regions of the gene are rare, but in some cases have been shown to alter the transcriptional activity of...
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