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

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

Atherosclerosis - 1 Nov 2002

Castillo Sergio, Tejedor Diego, Mozas Pilar, Reyes Gilberto, Civeira Fernando, Alonso Rodrigo, Ros Emilio, Pocoví Miguel, Mata Pedro

Abstract excerpt

Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) are autosomal codominant diseases characterized by elevated LDL cholesterol levels and premature coronary artery disease. Mutations of the LDL-receptor and apolipoprotein B genes, which affect the binding domains of their protein products, are the causal defects. Securing the diagnosis of these conditions by molecular assays is...

Read the complete abstract on PubMed

Topics

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

Share to Age Distribution
Share to Apolipoproteins B

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

Share to Chi-Square Distribution

Share to Hyperlipoproteinemia Type II

Share to Probability

Share to Registries

Share to Sampling Studies

Share to Sex Distribution

Source

Identifiers

PMID: 12208478
DOI: 10.1016/s0021-9150(02)00190-9

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

The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia.PMID 12208478Read ↗

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

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.Semantic proximity Read ↗

Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.Semantic proximity Read ↗

Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.Semantic proximity Read ↗

Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary.Semantic proximity Read ↗

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.Semantic proximity Read ↗

Molecular characterization of familial hypercholesterolemia in Spain.Semantic proximity Read ↗

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

ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature.Semantic proximity Read ↗

A new but frequent mutation of apoB-100-apoB His3543Tyr.Semantic proximity Read ↗

Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.Semantic proximity Read ↗

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