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

1990/07/01 by Roberto Taramelli, Marco Pontoglio, Giulia Candiani +9 · 6 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Acyl-CoA #Acyltransferase #Allele #Biochemistry #Biology #Cholesterol #Cholesterol and Lipid Metabolism #Enzyme #Exon #Gene #Genetics #Hepatitis C virus research #Lecithin #Lipoprotein #Molecular biology #Mutation #RNA and protein synthesis mechanisms #Sterol O-acyltransferase #Transferase

paper · doi:10.1007/bf00193195

crossref issued 1990/07/01 · crossref published 1990/07/01 · crossref published-print 1990/07/01 · openalex publication_date 1990/07/01 · crossref created 2004/09/25 · crossref deposited 2019/04/08 · crossref indexed 2025/09/20 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

Cited by

• The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
• Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene
• Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency
• Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).
• The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families
• Lecithin–cholesterol acyltransferase [wikipedia]