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Article

The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.

FEBS letters - 14 Sept 1992

Skretting G, Blomhoff J P, Solheim J, Prydz H

Abstract excerpt

Three of the original Norwegian lecithin:cholesterol acyltransferase (LCAT) deficiency families have been investigated for mutations in the gene for lecithin:cholesterol acyltransferase by DNA sequencing of the exons amplified by the polymerase chain reaction. A single T----A transversion in codon 252 in exon 6 converting Met(ATG) to Lys(AAG) was observed in all homozygotes. In spite of the identical mutation,...

Topics

Female
Humans
Lecithin Cholesterol Acyltransferase Deficiency
Male
Mutation
Norway
Phosphatidylcholine-Sterol O-Acyltransferase
Polymerase Chain Reaction

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1516702
DOI: 10.1016/0014-5793(92)80795-i

Genes

LCAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1516702-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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