Article
The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations.
Blood - 15 Jul 2004
Danckwardt Sven, Gehring Niels H, Neu-Yilik Gabriele, Hundsdoerfer Patrick, Pforsich Margit, Frede Ute, Hentze Matthias W, Kulozik Andreas E
Abstract excerpt
The functional analysis of the common prothrombin 20210 G>A(F2 20210(*)A) mutation has recently revealed gain of function of 3'end processing as a novel genetic mechanism predisposing to human disease. We now show that the physiologic G at the cleavage site at position 20210 is the functionally least efficient nucleotide to support 3'end processing but has evolved to be physiologically optimal. Furthermore, the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
