LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina

Corral, Pablo; Bañares, Virginia; Sáenz, Benjamín; Zago, Valeria; Sarobe, Agustina; López, Graciela; Berg, Gabriela; Schreier, Laura.

Arch. cardiol. Méx; 90 (2), 2020

Abstract Objective: Familial hypercholesterolemia (FH) is a monogenic disease, associated with variants in the LDLR, APOB and PCSK9 genes. The initial diagnosis is based on clinical criteria like the DLCN criteria. A score > 8 points qualifies the patient as "definite" for FH diagnosis. The detection...

Apolipoproteína B-100/genética, Apolipoproteínas E/genética, Argentina, Variación Genética, Hiperlipoproteinemia Tipo II/genética, Mutación, Fenotipo, Polimorfismo de Nucleótido Simple, Proproteína Convertasa 9/genética, Receptores de LDL/genética

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