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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...

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Source

Identifiers

PMID: 7658165

Genes

LCAT

Provenance

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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Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA.PMID 7658165Read ↗

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