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Article

FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia.

Clinical genetics - 1 Nov 2003

Dedoussis G V Z, Pitsavos C, Kelberman D, Skoumas J, Prassa M E, Choumerianou D M, Stefanadis C, Humphries S E, Toutouzas P

Abstract excerpt

In a patient with familial hypercholesterolemia (FH), we have identified a new mutation (-45delT) in repeat 3 of the low-density lipoprotein receptor (LDLR) gene promoter. Analysis of a neutral polymorphism in the LDLR mRNA from the patient's white blood cells showed that the expression of one allele was significantly reduced, and cells have only 24% of LDLR activity by binding and uptake of DiI-LDL. Transient...

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Source

Identifiers

PMID: 14616764
DOI: 10.1034/j.1399-0004.2003.00164.x

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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FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia.PMID 14616764Read ↗

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