Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.

doi:10.1016/j.trsl.2007.12.001

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

Community

Back to search

Article

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.

Translational research : the journal of laboratory and clinical medicine - 1 Mar 2008

Ejarque Ismael, Real Jose T, Martinez-Hervas Sergio, Chaves F Javier, Blesa Sebastian, Garcia-Garcia Ana B, Millan Enrique, Ascaso Juan F, Carmena Rafael

Abstract excerpt

Familial hypercholesterolemia (FH) and familial defective apoB 100 (FDB) are characterized by increased plasma low-density lipoprotein cholesterol (LDLc) levels and risk of coronary heart disease (CHD). FDB is clinically indistinguishable from FH. The aims of this study were to evaluate clinical diagnosis criteria for FDB and to compare the lipoprotein phenotype between carriers of LDL receptor (LDLR) gene...

Read the complete abstract on PubMed

Topics

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

Share to Apolipoprotein B-100

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

Share to Cholesterol, LDL

Share to Coronary Disease

Share to Europe

Share to Founder Effect

Share to Genetic Carrier Screening

Share to Hyperlipoproteinemia Type II

Share to Receptors, LDL

Source

Open in PubMed

Identifiers

PMID: 18279815
DOI: 10.1016/j.trsl.2007.12.001

Genes

LDLR

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

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.PMID 18279815Read ↗

[Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population].Semantic proximity Read ↗

Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia.Semantic proximity Read ↗

Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.Semantic proximity Read ↗

The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia.Semantic proximity Read ↗

Familial defective apolipoprotein B-100: A review.Semantic proximity Read ↗

Screening of APOB gene mutations in subjects with clinical diagnosis of familial hypercholesterolemia.Semantic proximity Read ↗

Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.Semantic proximity Read ↗

Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function.Semantic proximity Read ↗

Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.Semantic proximity Read ↗

Familial defective apolipoprotein B-100.Semantic proximity Read ↗

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia.Semantic proximity Read ↗

Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries.Semantic proximity Read ↗

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