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Article

FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.

European journal of clinical investigation - 1 Jun 2004

Dedoussis G V Z, Skoumas J, Pitsavos C, Choumerianou D M, Genschel J, Schmidt H, Stefanadis C

Abstract excerpt

BACKGROUND: Familial hypercholesterolaemia (FH) is caused by mutations in the low-density lipoprotein receptor gene and the gene encoding apolipoprotein B-100, affecting one in 500 individuals. METHODS: One hundred and eighty-three Greek FH patients were screened for mutations on the LDLR and ApoB genes. RESULTS: We identified mutations in 67 probands and 11 relatives. Sixteen mutations located in eight different...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15200491
DOI: 10.1111/j.1365-2362.2004.01351.x

Genes

LDLR

Variants

Provenance

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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