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

1 Jan 2005

Abstract excerpt

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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PMID: 15712227
DOI: 10.1002/humu.20136

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