Three novel PROC gene lesions causing protein C deficiency

Missense mutations, three of them novel (Asn210\u2192Val, Asn248\u2192Ile, Ala355\u2192Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing haemophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded