Summary
Functional and immunological assays specific for protein C were employed in the study of a family with congenital protein C deficiency associated with venous thromboembolism. By both assays, four members of the family belonging to two generations had half-normal PC levels. These findings, as well as the normal mobility of the protein in crossed immunoelectrophoresis, suggest that PC deficiency in this family is due to the decreased synthesis of a functionally normal protein. In one member of the family oral administration of the anabolic steroid stanazolol increased PC levels until normal values, suggesting that the defect can be overcome by pharmacological stimulation of protein synthesis.
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This work was supported in part by grants from theConsiglio Nazionale delle Ricerche (CNR), Roma, Italy, ‘Progetto Finalizzato Ingegneria Genetica e Basi Molecolari delle Malattie Genetiche.
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Mannucci, P.M., Bottasso, B., Sharon, C. et al. Treatment with stanazolol of type I protein C deficiency in an Italian family. La Ricerca Clin. Lab. 14, 673–680 (1984). https://doi.org/10.1007/BF02906308
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DOI: https://doi.org/10.1007/BF02906308