Functional analysis from ex-vivo characterization of LDLR exon 13–15 duplication associated to familial hypercholesterolemia

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Authors

Catalina Martínez · University of Concepción

Carolina Alarcón · University of Concepción

Claudia Radojkovic · University of Concepción

Andrea Hernández Cid · University of Concepción

Noemí Vilches · University of Concepción

Enrique Guzmán‐Gutiérrez · University of Concepción

Katia Sáez

Abstract

The functional analysis showed that the mutation affects the proper transport and function of LDLR, resulting in a dysfunctional protein that cannot effectively internalize LDL.

Topics & Keywords

Lipoproteins and Cardiovascular Health Lipid metabolism and disorders Diabetes, Cardiovascular Risks, and Lipoproteins

Publication Details

Published in: Frontiers in Endocrinology

Volume 17, pp. 1733372-1733372

DOI: 10.3389/fendo.2026.1733372

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Functional analysis from ex-vivo characterization of LDLR exon 13–15 duplication associated to familial hypercholesterolemia

Authors

Abstract

Topics & Keywords

Publication Details