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Article

Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.

European journal of internal medicine - 1 Oct 2011

Diakou Maria, Miltiadous George, Xenophontos Stavroulla L, Manoli Panayiotis, Cariolou Marios A, Elisaf Moses

Abstract excerpt

BACKGROUND: Familial Hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum 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. Furthermore, there are 3 additional genetic disorders that cause clinical syndromes that...

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Source

Identifiers

PMID: 21925044
DOI: 10.1016/j.ejim.2011.01.003

Genes

LDLR
PCSK9

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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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