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 novel mutation in the intron 1 splice donor site of the cholesterol ester transfer protein (CETP) gene as a cause of hyperalphalipoproteinemia.

Metabolism: clinical and experimental - 1 Mar 2002

Jap Tjin-Shing, Wu Yi-Chi, Tso Yi-Chu, Chiu Chih-Yang

Abstract excerpt

The exchange of cholesterol ester (CE) between lipoproteins occurs through the action of cholesterol ester transfer protein (CETP). The human CETP gene is composed of 16 exons encompassing 25 kbp on chromosome 16q13. The objective of this study was to determine whether a mutation in the CETP gene accounted for severe hyperalphalipoproteinemia in an 80-year-old subject. As a secondary objective, we also...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Cholesterol Ester Transfer Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Recombinant

Share to Glycoproteins

Share to Introns

Share to Lipoproteins, HDL

Share to Reference Values

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 11887180
DOI: 10.1053/meta.2002.30527

Genes

CETP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the intron 1 splice donor site of the cholesterol ester transfer protein (CETP) gene as a cause of hyperalphalipoproteinemia.PMID 11887180Read ↗

[Cholesteryl ester transfer protein (CETP) deficiency and increased HDL cholesterol levels (hyperalphalipoproteinemia)].Semantic proximity Read ↗

Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects.Semantic proximity Read ↗

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.Semantic proximity Read ↗

Frequency of exon 15 missense mutation (442D:G) in cholesteryl ester transfer protein gene in hyperalphalipoproteinemic Japanese subjects.Semantic proximity Read ↗

Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia.Semantic proximity Read ↗

Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection.Semantic proximity Read ↗

A novel nonsense mutation (G181X) in the human cholesteryl ester transfer protein gene in Japanese hyperalphalipoproteinemic subjects.Semantic proximity Read ↗

A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins.Semantic proximity Read ↗

Carriers of three polymorphisms of cholesteryl ester transfer protein gene are at increased risk to coronary heart disease in a Chinese population.Semantic proximity Read ↗

Cholesteryl ester transfer protein gene: two common mutations and their effect on plasma high-density lipoprotein cholesterol content.Semantic proximity Read ↗

Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol.Semantic proximity Read ↗

Frequency of intron 14 splicing defect of cholesteryl ester transfer protein gene in the Japanese general population--relation between the mutation and hyperalphalipoproteinemia.Semantic proximity Read ↗

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