Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.

Eugenia Biguzzi Cristina Razzari David A Lane Giancarlo Castaman Antonio Cappellari Paolo Bucciarelli Gessica Fontana Maurizio Margaglione Giovanna D'Andrea Rachel E Simmonds Suely M Rezende Roger Preston Domenico Prisco Elena M Faioni

Hum Mutat

Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre, Department of Internal Medicine and Dermatology, IRCCS Maggiore Hospital and University of Milan, Milan, Italy.

Published: March 2005

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 (

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http://dx.doi.org/10.1002/humu.20136	DOI Listing

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