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Protein S deficiency
D Borgel1, S Gandrille, M Aiach
1Unité INSERM 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France. borgel@infobiogen.fr
Abstract:
The protein C (PC) pathway, with its cofactor protein S (PS), is an important natural antithrombotic mechanism. Patients with phenotypic PS deficiency may develop recurrent thrombosis during adulthood, with a probability of remaining free of thrombosis of about 50% at age 45. The molecular basis for hereditary PS deficiencies is highly heterogeneous, with a large spectrum of mutations that have various effects on the expression of the relevant allele.
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