Article
Polymorphism in the alpha(1)-antichymotrypsin (ACT) gene promoter: effect on expression in transfected glial and liver cell lines and plasma ACT concentrations.
Human genetics - 1 Sept 2001
Morgan K, Licastro F, Tilley L, Ritchie A, Morgan L, Pedrini S, Kalsheker N
Abstract excerpt
Alpha1-antichymotrypsin (ACT: new identification SERPINA3) is a member of the serine proteinase inhibitor (serpin) gene family and biochemically has been shown to be a constituent of the senile plaques of Alzheimer's disease. We describe a polymorphism (G-->T) in the promoter region of the ACT gene with the T allele being associated with a 22% increase in the mean plasma ACT concentrations. By reporter gene...
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