Article
Identification of a specific intronic PEAR1 gene variant associated with greater platelet aggregability and protein expression.
Blood - 22 Sept 2011
Faraday Nauder, Yanek Lisa R, Yang Xiao Ping, Mathias Rasika, Herrera-Galeano J Enrique, Suktitipat Bhoom, Qayyum Rehan, Johnson Andrew D, Chen Ming-Huei, Tofler Geoffrey H, Ruczinski Ingo, Friedman Alan D, Gylfason Arnaldur, Thorsteinsdottir Unnur, Bray Paul F, O'Donnell Christopher J, Becker Diane M, Becker Lewis C
Abstract excerpt
Genetic variation is thought to contribute to variability in platelet function; however, the specific variants and mechanisms that contribute to altered platelet function are poorly defined. With the use of a combination of fine mapping and sequencing of the platelet endothelial aggregation receptor 1 (PEAR1) gene we identified a common variant (rs12041331) in intron 1 that accounts for ≤ 15% of total phenotypic...
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