3 NOVEL MUTATIONS IN THE PROTEIN-C (PROC) GENE CAUSING VENOUS THROMBOSIS

Missense mutations, three of them novel (Gly47-->Cys, Arg178-->Pro, Al a259-->Thr), were found in the protein C genes of four. patients with inherited protein C deficiency associated with venous thrombosis, Comp arison with the phenotypic effects of mutations in the analogous resid ues of factor IX and the use of a molecular model of protein C provide d explanations as to how these lesions might alter either the structur e, function or stability of the protein C molecules encoded.