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 lysoso...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cholesterol
- Cholesterol Ester Storage Disease
- Cholesterol, HDL
- Exons
- Female
- Heterozygote
- Humans
- Lipase
- Lymphocytes
- Lysosomes
- Male
- Molecular Sequence Data