Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature

Bijan Roshan, Om P. Ganda, Ranil DeSilva, Rose B. Ganim, Edmund Ward, Sarah D. Haessler, Eliana Y. Polisecki, Bela F. Asztalos and Ernst J. Schaefer

Journal of Clinical Lipidology 5 ( 6 ): 493 - 499 , 2011