Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Nov 2000

Salazar L A, Cavalli S A, Hirata M H, Diament J, Forti N, Giannini S D, Nakandakare E R, Bertolami M C, Hirata R D

Abstract excerpt

Familial hypercholesterolemia (FH) is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL) level. The disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Analysis of Variance

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Case-Control Studies

Share to Hyperlipoproteinemia Type II

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Share to Receptors, LDL

Source

Identifiers

PMID: 11050659
DOI: 10.1590/s0100-879x2000001100006

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia.PMID 11050659Read ↗

Effects of Ava II and Hinc II polymorphisms at the LDL receptor gene on serum lipid levels of Brazilian individuals with high risk for coronary heart disease.Semantic proximity Read ↗

LDLR Gene Mutation p.Asp360His and Familial Hypercholesterolemia in a Mexican Community.Semantic proximity Read ↗

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

Lipid-lowering response of the HMG-CoA reductase inhibitor fluvastatin is influenced by polymorphisms in the low-density lipoprotein receptor gene in Brazilian patients with primary hypercholesterolemia.Semantic proximity Read ↗

Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia.Semantic proximity Read ↗

Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.Semantic proximity Read ↗

Association of DNA-haplotypes in the human LDL-receptor gene with normal serum cholesterol levels.Semantic proximity Read ↗

Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia.Semantic proximity Read ↗

P1A1/A2 polymorphism of platelet glycoprotein IIIa and risk of acute coronary syndromes in heterozygous familial hypercholesterolemia.Semantic proximity Read ↗

Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.Semantic proximity Read ↗

Pvu II polymorphism of low density lipoprotein receptor gene and familial hypercholesterolemia. Study of Italians.Semantic proximity Read ↗

Renin-angiotensin system polymorphisms and coronary events in familial hypercholesterolemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.