Article
Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency.
Arteriosclerosis, thrombosis, and vascular biology - 1 Apr 1995
Miettinen H, Gylling H, Ulmanen I, Miettinen T A, Kontula K
Abstract excerpt
Lecithin:cholesterol acyltransferase (LCAT) deficiency is a genetic disorder associated with low levels of serum HDL cholesterol. The proband of the Finnish LCAT-deficient family had corneal opacities, proteinuria, anemia with stomatocytosis, low serum HDL cholesterol (0.27 mmol/L), and low LCAT activity. Sequence analysis of his LCAT gene revealed compound heterozygosity for two different mutations: a C...
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