Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA.

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Article

Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA.

Journal of lipid research - 1 May 1995

Miller M, Zeller K, Kwiterovich P C, Albers J J, Feulner G

Abstract excerpt

Previous mutations associated with lecithin:cholesterol acyltransferase (LCAT) deficiency have been identified using genomic DNA. To facilitate mutation analysis, we used cDNA from cultured fibroblasts which were shown to express LCAT mRNA. Using reverse-transcriptase PCR, LCAT cDNA was obtained from a 13-year-old boy with complete LCAT deficiency, characterized by low HDL-C (3 mg/dl), nondetectable initial...

Topics

Adolescent
Alleles
Apolipoproteins
Base Sequence
Cells, Cultured
Cholesterol
DNA, Complementary
Esterification
Fibroblasts
Gene Expression Regulation, Enzymologic
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Lecithin Cholesterol Acyltransferase Deficiency

Lipoproteins

Male

Molecular Sequence Data

Mutation

Pedigree

Source

Open in PubMed

Identifiers

PMID: 7658165

Genes

LCAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7658165-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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