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Article

Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia.

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Nov 1994

Gudnason V, Day I N, Humphries S E

Abstract excerpt

We used the single-strand conformational polymorphism method to screen 311 patients with familial hypercholesterolemia from London lipid clinics and Southampton and South West Hampshire health district for mutations in the 3' part of exon 4 of the low-density lipoprotein (LDL) receptor gene. This...

Topics

Base Sequence
Female
Humans
Hyperlipoproteinemia Type II
Lipids
Male
Molecular Probes
Molecular Sequence Data
Mutation
Polymorphism, Single-Stranded Conformational
Receptors, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7947594
DOI: 10.1161/01.atv.14.11.1717

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7947594-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia.PMID 7947594Read ↗

Use of the single strand conformation polymorphism method for rapid screening for mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia: effect on plasma lipid levels of different classes of mutations.Semantic proximity Read ↗

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