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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 genomic DNA of the patients was amplified by polymerase chain reaction, using two oligonucleotide primers located in...

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Source

Identifiers

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

Genes

CETP

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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.

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