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

Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2008

Leren Trond P, Berge Knut Erik

Abstract excerpt

BACKGROUND: Characterization of the normally occurring mutations as the cause of hypocholesterolemia may increase our understanding of the normal lipid metabolism. METHODS: DNA from 93 unrelated hypocholesterolemic subjects with a mean (+/-SD) value for total serum cholesterol of 3.3 (+/-0.5) mmol/l) were subjected to DNA sequencing of the individual exons of the apolipoprotein B-100 (apoB-100) gene and of the...

Read the complete abstract on PubMed

Topics

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

Share to Apolipoprotein B-100
Share to Cholesterol

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Introns

Share to Proprotein Convertase 9

Share to Proprotein Convertases

Share to Serine Endopeptidases

Source

Identifiers

PMID: 18710658
DOI: 10.1016/j.cca.2008.07.025

Genes

PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.PMID 18710658Read ↗

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.Semantic proximity Read ↗

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol.Semantic proximity Read ↗

Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy.Semantic proximity Read ↗

PCSK9 gene mutations and low-density lipoprotein cholesterol.Semantic proximity Read ↗

Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemiaSemantic proximity Read ↗

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.Semantic proximity Read ↗

Of PCSK9, cholesterol homeostasis and parasitic infections: possible survival benefits of loss-of-function PCSK9 genetic polymorphisms.Semantic proximity Read ↗

Familial hypobetalipoproteinemia caused by homozygous loss-of-function mutations in PCSK9: A case report.Semantic proximity Read ↗

Hypobetalipoproteinemia and abetalipoproteinemia.Semantic proximity Read ↗

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.Semantic proximity Read ↗

Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.Semantic proximity Read ↗

Characterization of novel mutations in the catalytic domain of the PCSK9 gene.Semantic proximity Read ↗

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