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

@article{Taramelli1990LecithinCA,
  title={Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele},
  author={Roberto Taramelli and Marco Pontoglio and Giulia Candiani and Sergio Ottolenghi and Hans Dieplinger and Alberico L. Catapano and JohnJ. Albers and Claudio Vergani and John O. Mclean},
  journal={Human Genetics},
  year={1990},
  volume={85},
  pages={195-199}
}
The 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 substitution of… CONTINUE READING

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