A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.

Lignende værker

• A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.
  af: Funke, H, et al.
  Udgivet: (1991)
• Corneal Haze and Peripheral Corneal Arcus in a Young Patient: Lecithin-Cholesterol Acyltransferase Deficiency
  af: Hüseyin Mayalı, et al.
  Udgivet: (2014-08-01)
• High-Density Lipoprotein, Lecithin: Cholesterol Acyltransferase, and Atherosclerosis
  af: Ossoli, Alice, et al.
  Udgivet: (2016)
• Familial Plasma Lecithin:Cholesterol Acyltransferase Deficiency
  af: Hamnström, Bengt, et al.
  Udgivet: (1969)
• 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).
  af: Klein, H G, et al.
  Udgivet: (1992)