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Article

The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

The Journal of pediatrics - 1 Aug 2009

Guardamagna Ornella, Restagno Gabriella, Rolfo Elio, Pederiva Cristina, Martini Scipione, Abello Francesca, Baracco Viviana, Pisciotta Livia, Pino Elisabetta, Calandra Sebastiano, Bertolini Stefano

Abstract excerpt

OBJECTIVE: To ascertain whether the molecular characterization of a defect in the low-density lipoprotein (LDL) receptor gene (LDLR) in children with heterozygous familial hypercholesterolemia (heFH) identifies subjects at greater risk of developing premature coronary artery disease (pCAD) later in life. STUDY DESIGN: We investigated 264 children with heFH from 201 families, along with 148 affected parents and...

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Source

Identifiers

PMID: 19446849
DOI: 10.1016/j.jpeds.2009.02.022

Genes

LDLR
CAD

Provenance

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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