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

A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.

Atherosclerosis - 1 Nov 2007

Bourbon M, Sun X-M, Soutar A K

Abstract excerpt

Familial hypercholesterolaemia (FH) is usually caused by mutations in the low density lipoprotein (LDL) receptor gene (LDLR) that impair clearance of LDL from the circulation. The increased risk of premature coronary heart disease associated with FH can be reduced by dietary advice and treatment with lipid-lowering drug therapy, but it is important to identify affected individuals at an early stage. Several...

Read the complete abstract on PubMed

Topics

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

Share to Diet
Share to DNA Mutational Analysis
Share to Hypercholesterolemia

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

Share to Lipids

Share to Mass Screening

Share to Receptors, LDL

Share to RNA, Messenger

Share to RNA Splicing

Source

Identifiers

PMID: 17335829
DOI: 10.1016/j.atherosclerosis.2007.01.034

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

A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.PMID 17335829Read ↗

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.Semantic proximity Read ↗

LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia.Semantic proximity Read ↗

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism.Semantic proximity Read ↗

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.Semantic proximity Read ↗

A Deep Intronic Variant in LDLR in Familial HypercholesterolemiaSemantic proximity Read ↗

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.Semantic proximity Read ↗

Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.Semantic proximity Read ↗

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

Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.Semantic proximity Read ↗

Functional characterization of splicing and ligand-binding domain variants in the LDL receptorSemantic proximity Read ↗

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

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