Two novel molecular defects in the LCAT gene are associated with fish eye disease.

@article{Kuivenhoven1996TwoNM,
  title={Two novel molecular defects in the LCAT gene are associated with fish eye disease.},
  author={Jan A. Kuivenhoven and Anton F. H. Stalenhoef and John Stuart Hill and PierreN. M. Demacker and Abdellatif Errami and John J. P. Kastelein and Parmely H. Pritchard},
  journal={Arteriosclerosis, thrombosis, and vascular biology},
  year={1996},
  volume={16 2},
  pages={
          294-303
        }
}
A 53-year-old man with a severely reduced HDL cholesterol level, dense corneal opacities, normal renal function, and premature coronary artery disease was investigated together with 16 members of his family. The proband was diagnosed with fish eye disease. As in previously reported patients with fish eye disease, the endogenous plasma cholesterol esterification rate was near normal, yet lecithin:cholesterol acyltransferase (LCAT) activity was almost absent when measured with exogenous HDL… CONTINUE READING
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