Total deficiency of plasma cholesteryl ester transfer protein in subjects homozygous and heterozygous for the intron 14 splicing defect.

doi:10.1016/0006-291x(90)90542-u

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Article

Total deficiency of plasma cholesteryl ester transfer protein in subjects homozygous and heterozygous for the intron 14 splicing defect.

Biochemical and biophysical research communications - 16 Aug 1990

Yamashita S, Hui D Y, Sprecher D L, Matsuzawa Y, Sakai N, Tarui S, Kaplan D, Wetterau J R, Harmony J A

Abstract excerpt

The molecular basis of cholesteryl ester transfer protein (CETP) deficiency was investigated in 4 unrelated CETP-deficient families. The high density lipoprotein-cholesterol levels of the probands exceeded 150 mg/dl. The plasma of the probands was totally deficient in CETP activity and mass. The...

Topics

Adult
Base Sequence
Carrier Proteins
Cholesterol
Cholesterol Ester Transfer Proteins
Cholesterol Esters
DNA
Female
Glycoproteins
Heterozygote
Homozygote
Humans
Hyperlipoproteinemias
Introns
Male

Source

Open in PubMed

Identifiers

PMID: 2390095
DOI: 10.1016/0006-291x(90)90542-u

Genes

CETP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2390095-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Middle Aged

Molecular Sequence Data

Mutation