Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene

1991/07/01 by Eiichi Maeda, Yoshiko Naka, Takashi Matozaki +4 · 20 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Medicine · #Biochemistry #Biology #Chemistry #Cholesterol #Cholesterol and Lipid Metabolism #Exon #Gene #Genetics #Lecithin—cholesterol acyltransferase #Lipid metabolism and biosynthesis #Lipoprotein #Missense mutation #Molecular biology #Mutation #RNA and protein synthesis mechanisms #Sterol O-acyltransferase #genomic DNA

paper · doi:10.1016/0006-291x(91)90129-u

published in Biochemical and Biophysical Research Communications 178(2), 460-466 (Elsevier BV)

crossref issued 1991/07/01 · crossref published 1991/07/01 · crossref published-print 1991/07/01 · openalex publication_date 1991/07/01 · crossref created 2004/10/31 · crossref deposited 2025/09/03 · openalex created_date 2025/10/10 · crossref indexed 2025/11/02 · openalex updated_date 2026/07/22

Citations

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

Cited by

• The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
• 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
• Molecular defect in familial lecithin:Cholesterol acyltransferase (LCAT) deficiency: A single nucleotide insertion in LCAT gene causes a complete deficient type of the disease
• Lecithin–cholesterol acyltransferase [wikipedia]