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.

Funke, H.; von Eckardstein, A.; Pritchard, P. H.; Albers, J. J.; Kastelein, J. J. P.; Droste, C.; Assmann, G. : 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.  Proc. Nat. Acad. Sci. 88: 4855-4859, 1991.

PubMed ID: 
2052566