Article
A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease.
Arteriosclerosis, thrombosis, and vascular biology - 1 Jun 1995
Seedorf U, Wiebusch H, Muntoni S, Christensen N C, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G
Abstract excerpt
Cholesterol ester storage disease (CESD) is associated with premature atherosclerosis, hepatomegaly, elevated LDL cholesterol levels, and in most cases, low HDL cholesterol levels. Previous studies have shown a G-->A mutation at the 3' splice junction of exon 8 (E8SJM) of the gene encoding lysosomal acid lipase (LAL) in two kindreds with CESD. In a Canadian-Norwegian kindred with this disease, we show this...
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