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.

Lignende værker

• Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency.
  af: Albers, J J, et al.
  Udgivet: (1981)
• Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.
  af: Klein, H G, et al.
  Udgivet: (1993)
• A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.
  af: Funke, H, et al.
  Udgivet: (1991)
• Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.
  af: Frohlich, J, et al.
  Udgivet: (1982)
• 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)