Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population

Andrea Sánchez,Paulina Bustos,Paula Honorato,Carlos F Burgos,Natalia Barriga,Cinthia E Jannes,Katia Sáez,Rodrigo Alonso,Sylvia Asenjo,Claudia Radojkovic

Journal of Clinical Lipidology（2021）

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摘要

•p.Asp47Asn carriers displayed higher LDL cholesterol levels than wild type.•In silico analysis predicted a lower affinity of LDL-R variant for apoB100 and apoE.•p.Asp47Asn associates to a clinical phenotype of Familial Hypercholesterolemia.

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关键词

Familial hypercholesterolemia,p.Asp47Asn LDL receptor variant,Genetic diagnosis,Clinical phenotype,In silico prediction

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