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Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database

5 Mar 2008

Abstract excerpt

Familial hypercholesterolemia (FH) (OMIM 143890) is most commonly caused by variations in the LDLR gene which encodes the receptor for Low Density Lipoprotein (LDL) cholesterol particles. We have updated the University College London (UCL) LDLR FH database (http://www.ucl.ac.uk/ldlr) by adding variants reported in the literature since 2001, converting existing entries to standard nomenclature, and transferring...

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PMID: 18325082
DOI: 10.1111/j.1469-1809.2008.00436.x

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