Article
Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7.
Molecular biology and evolution - 1 Aug 2010
Cagliani Rachele, Fumagalli Matteo, Riva Stefania, Pozzoli Uberto, Fracassetti Marco, Bresolin Nereo, Comi Giacomo P, Sironi Manuela
Abstract excerpt
The CPB2 gene encodes thrombin-activatable fibrinolysis inhibitor (TAFI), a hepatically secreted zymogen acting as a molecular link among coagulation, fibrinolysis, and inflammation. Variants in CPB2 have been associated with several human conditions. We resequenced and analyzed the two regions carrying previously known nonsynonimous single-nucleotide polymorphisms (Ala147Thr and Ile325Thr) and variants affecting...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
