Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele

@article{Taramelli2004LecithinCA,
  title={Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele},
  author={R. Taramelli and M. Pontoglio and G. Candiani and S. Ottolenghi and H. Dieplinger and A. Catapano and J. Albers and C. Vergani and John George Bruce Mclean},
  journal={Human Genetics},
  year={2004},
  volume={85},
  pages={195-199}
}
  • R. Taramelli, M. Pontoglio, +6 authors John George Bruce Mclean
  • Published 2004
  • Biology, Medicine
  • Human Genetics
  • SummaryThe enzyme, lecithin cholesterol acyltransferase (LCAT), is responsible for the esterification of plasma cholesterol mediating the transfer of an acyl group from lecithin to the 3-hydroxy group of cholesterol. Deficiency of the enzyme is a well-known syndrome with a widespread geographic occurrence. We have cloned an allele from a patient homozygous for the LCAT deficiency. The only change that we could detect is a C to T transition in the fourth exon of the gene; this causes a… CONTINUE READING

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