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Article

Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

Atherosclerosis - 1 Dec 2014

Mollaki Vasiliki, Progias Pavlos, Drogari Euridiki

Abstract excerpt

OBJECTIVE: Familial Hypercholesterolemia (FH) is a common lipid metabolism disease, resulting in premature atherosclerosis, even from childhood. We aimed to define the genetic basis of FH in children and their families, to refine the spectrum of Low-Density Lipoprotein Receptor gene (LDLR) mutations and identify genotype-to-phenotype correlations in patients of Greek origin. METHODS: LDLR was analyzed in 561...

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Identifiers

PMID: 25463123
DOI: 10.1016/j.atherosclerosis.2014.09.031

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LDLR

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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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