Molecular defect in familial lecithin:Cholesterol acyltransferase (LCAT) deficiency: A single nucleotide insertion in LCAT gene causes a complete deficient type of the disease

This publication has 17 references indexed in Scilit:

• Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency
  The Lancet, 1991
• Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene
  Biochemical and Biophysical Research Communications, 1991
• The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease
  Biochemical and Biophysical Research Communications, 1987
• The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22
  Annals of Human Genetics, 1987
• Impaired intermediate-density lipoprotein triglyceride hydrolysis in familial lecithin: Cholesterol acyltransferase (LCAT) deficiency
  Scandinavian Journal of Clinical and Laboratory Investigation, 1987
• Nephropathy of Familial Lecithin-Cholesterol Acyltransferase Deficiency: Report of a Case
  American Journal of Kidney Diseases, 1986
• Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression
  Nucleic Acids Research, 1986
• Cholesterol Transport Between Cells and Body Fluids: Role of Plasma Lipoproteins and the Plasma Cholesterol Esterification System
  Medical Clinics of North America, 1982
• High capacity gel preparative electrophoresis for purification of fragments of genomic DNA
  Analytical Biochemistry, 1978
• Production of lecithin: cholesterol acyltransferase by the isolated perfused rat liver
  Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1970