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Published on: September 9, 2012
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study
Eugenia Biguzzi1, Cristina Razzari, David A Lane
1Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre, Department of Internal Medicine and Dermatology, IRCCS Maggiore Hospital and University of Milan, Milan, Italy. eugeniabiguzzi@yahoo.it
Abstract:
The Protein S Italian Team (PROSIT) enrolled 79 protein S (PS) deficient families and found 38 PROS1 variations (19 novel) in 53 probands. Of these, 23 variants were selected for expression in'vitro, to evaluate their role as possible causative variants. Transient expression showed high secretion levels (>75%) for three variants, which were considered neutral. Seven missense and five nonsense variants showed low (
