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Asp47Asn carriers compared to the wild type genotype. In silico analysis predicted a reduction in the binding capacity of the ligand-binding modules LA1-2 of p.Asp47Asn LDL-R for ApoB100 and ApoE, which was not produced by local structural changes or folding defects but as a consequence of a decreased apparent affinity for both apolipoproteins. The clinical phenotype and the structural effects of p.Asp47Asn LDL-R mutation suggest that this variant associates to FH. The clinical phenotype and the structural effects of p.Asp47Asn LDL-R mu
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