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Update on low density lipoprotein receptor mutations
Current Opinion in Lipidology, 1998Recent research has focused on the rapid detection of new LDL receptor gene variants and large scale screening for known mutations. Whether the nature of the mutation in the LDL receptor gene in familial hypercholesterolaemia determines clinical variability has been examined, as well as the potential value of detecting mutation carriers for clinical ...
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[Low density lipoprotein receptor and hypercholesterolemia].
La Revue du praticien, 1994Familial hypercholesterolaemia is the most frequent of the monogenic genetic disorders. The studies of Brown, Goldstein and collaborators have facilitated decisive progress in our understanding of the pathophysiology of this hypercholesterolaemia, and more specifically in our knowledge of the metabolism of the low-density lipoproteins (LDL) and of ...
E, Bruckert, J, Chapman
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The low-density lipoprotein receptor gene family: a cellular Swiss army knife?
Trends in Cell Biology, 2002Anders Nykjaer, Thomas E Willnow
exaly
Involvement of Low‐Density Lipoprotein Receptor in the Pathogenesis of Pulmonary Hypertension
Journal of the American Heart Association, 2020Lisa K Lee +2 more
exaly
Soluble low density lipoprotein receptors
The aims of this thesis were to i) investigate the effect of the FH Cape Town-1 mutation on the in vitro folding of a concatemer of the amino-terminal (LB1) and second (LB2) ligand binding domain modules and ii) obtain sufficient quantities of a soluble LDL receptor that would retain the ability to bind its native ligands and may be then used to study ...openaire +2 more sources