Article
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.
Human genetics - 1 Jul 1990
Taramelli R, Pontoglio M, Candiani G, Ottolenghi S, Dieplinger H, Catapano A, Albers J, Vergani C, McLean J
Abstract excerpt
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 occurren...
Topics
- Alleles
- Amino Acid Sequence
- DNA Probes
- Exons
- Gene Amplification
- Homozygote
- Humans
- Hypolipoproteinemias
- Introns
- Lecithin Cholesterol Acyltransferase Deficiency
- Male
- Molecular Sequence Data
- Mutation
- Transfection