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Article

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jul 1992

Sun X M, Webb J C, Gudnason V, Humphries S, Seed M, Thompson G R, Knight B L, Soutar A K

Abstract excerpt

A sample of 200 patients with a clinical diagnosis of heterozygous (189) or homozygous (11) familial hypercholesterolemia (FH) attending lipid clinics in the London area have been screened for the presence of major gene defects in the low density lipoprotein (LDL) receptor gene by Southern blotting of genomic DNA with specific probes. This study is part of a project to determine the frequency of known mutations...

Topics

Alleles
Blotting, Southern
Chromosome Deletion
DNA
Gene Rearrangement
Heterozygote
Homozygote
Humans
Hyperlipoproteinemia Type II
Lipoproteins, LDL
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Receptors, Cell Surface

Receptors, Lipoprotein

United Kingdom

Source

Identifiers

PMID: 1319734
DOI: 10.1161/01.atv.12.7.762

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1319734-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.PMID 1319734Read ↗

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