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Article

Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.

Journal of atherosclerosis and thrombosis - 1 Jan 2005

Punzalan Felix Eduardo R, Sy Rody G, Santos Ronald S, Cutiongco Eva Maria, Gosiengfiao Silver, Fadriguilan Erdie, George Peter, Laurie Andrew

Abstract excerpt

BACKGROUND: Familial Hypercholesterolemia (FH) is an autosomal dominant disease resulting from mutations of the LDL (LDLR) receptor gene leading to a diminished catabolism and elevated level of LDL cholesterol (LDL-C). It is associated with an increased risk for cardiovascular disease (CVD). The MEDPED (Make Early Diagnosis-Prevent Early Death) program, an initiative cited by the WHO Human Genetics Programme in...

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Source

Identifiers

PMID: 16205024
DOI: 10.5551/jat.12.276

Genes

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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