Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain.

doi:10.1111/j.1399-0004.1996.tb02342.x

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Article

Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain.

Clinical genetics - 1 Jul 1996

Chaves F J, Puig O, García-Sogo M, Real J, Gil J V, Ascaso J, Carmena R, Armengod M E

Abstract excerpt

We have performed restriction fragment length polymorphism (RFLP) analysis at the low density lipoprotein receptor (LDLR) locus in order to investigate the molecular genetics of familial hypercholesterolemia (FH) in Spain. Firstly, a sample of 50 unrelated patients with a clinical diagnosis of FH...

Topics

Bacterial Proteins
Binding Sites
Blotting, Southern
DNA Probes
Deoxyribonucleases, Type II Site-Specific
Evaluation Studies as Topic
Haplotypes
Heterozygote
Humans
Hyperlipoproteinemia Type II
In Situ Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Models, Statistical

Mutation

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Receptors, LDL

Restriction Mapping

Spain

Source

Open in PubMed

Identifiers

PMID: 8891383
DOI: 10.1111/j.1399-0004.1996.tb02342.x

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8891383-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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