Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.
Article Details
- CitationCopy to clipboard
Biguzzi E, Razzari C, Lane DA, Castaman G, Cappellari A, Bucciarelli P, Fontana G, Margaglione M, D'Andrea G, Simmonds RE, Rezende SM, Preston R, Prisco D, Faioni EM
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.
Hum Mutat. 2005 Mar;25(3):259-69.
- PubMed ID
- 15712227 [ View in PubMed]
- 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 (