Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

Abstract excerpt

DNA screening for LDL receptor mutations was performed in 170 unrelated hyperlipidemic Chinese patients and two clinically diagnosed familial hypercholesterolemia patients. Two deletions (Del e3-5 and Del e6-8), eight point mutations (W-18X, D69N, R94H, E207K, C308Y, I402T, A410T, and A696G), and two polymorphisms (A370T and I602V) were identified. Of these mutations, C308Y and Del e6-8 were found in...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Lipoproteins and Cardiovascular Health
• Share to Cholesterol and Lipid Metabolism
• Share to Computational Drug Discovery Methods