Article ISI
JOURNAL OF CLINICAL LIPIDOLOGY  (2021)

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

Sanchez, Andrea; Bustos, Paulina; Burgos, Carlos F.; Asenjo, Sylvia; Radojkovic, Claudia

Abstract

BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder mainly caused by mutations in the LDL receptor (LDL-R) and characterized by elevation of low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease.

Más información

Título según WOS: Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population
Título de la Revista: JOURNAL OF CLINICAL LIPIDOLOGY
Volumen: 15
Número: 2
Editorial: Elsevier Science Inc.
Fecha de publicación: 2021
Página de inicio: 366
Página final: +
DOI:

10.1016/J.JACL.2021.01.002
Notas: ISI