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Article

Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.

Human mutation - 1 May 2001

Miltiadous G, Elisaf M, Bairaktari H, Xenophontos S L, Manoli P, Cariolou M A

Abstract excerpt

Familial Hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol levels due to an increase in low density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. So far, over 600 mutations have been reported for the...

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Source

Identifiers

PMID: 11317361
DOI: 10.1002/humu.1121

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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