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Article

Fenotipo de hipercolesterolemia familiar definitivo con estudio genético negativo en Argentina.

Archivos de cardiologia de Mexico - 1 Jan 2020

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

Abstract excerpt

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 of the presence of a variant in these genes allows carrying out familial cascade screening and better characterizes the...

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PMID: 32459195
DOI: 10.24875/ACM.19000221

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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