Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency

1991/09/01 by T. Gotoda, Takanari Gotoda, N Yamada +16 · 4 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Medicine · #Allele #Biochemistry #Biology #Caveolin-1 and cellular processes #Chemistry #Cholesterol #Cholesterol and Lipid Metabolism #Enzyme #Exon #Gene #Genetics #Lipoprotein #Missense mutation #Molecular biology #Mutant #Mutation #Phenotype #Protein Kinase Regulation and GTPase Signaling #Sterol O-acyltransferase

paper · doi:10.1016/0140-6736(91)90665-c

crossref issued 1991/09/01 · crossref published 1991/09/01 · crossref published-print 1991/09/01 · openalex publication_date 1991/09/01 · crossref created 2003/09/22 · crossref deposited 2025/09/09 · openalex created_date 2025/10/10 · crossref indexed 2025/11/02 · openalex updated_date 2026/08/01

Citations

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

Cited by

• The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
• 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]