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Genetic Testing for Autosomal Dominant Hypercholesterolemia


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FH-Primary Defect in LDLR

Slide 6

December 2008

As mentioned earlier, mutations in the LDLR gene, which encodes through the Low Density Lipoprotein Receptor (LDLR), are the underlying cause of FH. The LDLR protein is present on the cell surface of most cell types. As the receptor for LDL, LDLR binds LDL and mediates its uptake into cells.  Defects in the receptor result in lower uptake of LDL and increased levels of plasma LDL. The excess LDL is stored in cells and deposited as skin and tendinous xanthomas and atheromas.

FH-Primary Defect in LDLR


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