Article
A novel mutant, ApoA-I nichinan (Glu235-->0), is associated with low HDL cholesterol levels and decreased cholesterol efflux from cells.
Arteriosclerosis, thrombosis, and vascular biology - 1 Jun 1999
Han H, Sasaki J, Matsunaga A, Hakamata H, Huang W, Ageta M, Taguchi T, Koga T, Kugi M, Horiuchi S, Arakawa K
Abstract excerpt
A novel variant of apolipoprotein (apo) A-I associated with low high density lipoprotein (HDL) cholesterolemia has been identified in a Japanese family during screening for apoA-I variants by isoelectric focusing (IEF) gel analysis. ApoA-I (Glu235-->0) Nichinan was caused by a 3-bp deletion of nucleotides 1998 through 2000 in exon 4 of the apoA-I gene. Four subjects in the family were heterozygous carriers for...
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