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Article

Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.

The American journal of cardiology - 1 Nov 2008

Civeira Fernando, Ros Emilio, Jarauta Estibaliz, Plana Nuria, Zambon Daniel, Puzo Jose, Martinez de Esteban Juan P, Ferrando Juan, Zabala Sergio, Almagro Fatima, Gimeno Jose A, Masana Luis, Pocovi Miguel

Abstract excerpt

Early diagnosis is important in familial hypercholesterolemia (FH), a highly atherogenic condition, but internationally agreed clinical diagnostic criteria are lacking. Genetic testing for low-density lipoprotein (LDL) receptor (LDLR) and apolipoprotein B (APOB) gene defects is the preferable diagnostic method, but the best phenotype indication to proceed with genetic diagnosis has not been established. The aim...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18940289
DOI: 10.1016/j.amjcard.2008.06.056

Genes

APOB
LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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