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Article

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jan 1993

Gudnason V, King-Underwood L, Seed M, Sun X M, Soutar A K, Humphries S E

Abstract excerpt

A group of 200 patients with familial hypercholesterolemia (FH) who were attending lipid clinics in the London area have been screened for four known point mutations and a microdeletion in exon 4 of the low density lipoprotein receptor gene by polymerase chain reaction (PCR) amplification of genomic DNA and either enzyme digestion of the product or hybridization with allele-specific oligonucleotides. A point...

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Identifiers

PMID: 8093663
DOI: 10.1161/01.atv.13.1.56

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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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Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.PMID 8093663Read ↗

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Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.Semantic proximity Read ↗

Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia.Semantic proximity Read ↗

Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.Semantic proximity Read ↗

Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.Semantic proximity Read ↗

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.Semantic proximity Read ↗

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

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Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid ClinicSemantic proximity Read ↗

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Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.Semantic proximity Read ↗

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