FEBS Lett. 1992 Sep 14;309(3):307-10.

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

Skretting G, Blomhoff JP, Solheim J, Prydz H.

Source

Biotechnology Centre of Oslo, University of Oslo, Norway.

Abstract

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, the disease phenotypes differed in severity. This was not reflected in the expression of LCAT in the heterozygotes.

PMID:: 1516702; [PubMed - indexed for MEDLINE]

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Research Support, Non-U.S. Gov't

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Phosphatidylcholine-Sterol O-Acyltransferase

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Cited by 1 PubMed Central article

Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease. [J Clin Invest. 1994]
Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease.
Rader DJ, Ikewaki K, Duverger N, Schmidt H, Pritchard H, Frohlich J, Clerc M, Dumon MF, Fairwell T, Zech L. J Clin Invest. 1994 Jan; 93(1):321-30.

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