Three novel mutations in the protein C (PROC) gene causing venous thrombosis.
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Millar DS, Bevan D, Chitolie A, Reynaud J, Chisholm M, Kakkar VV, Cooper DN
Three novel mutations in the protein C (PROC) gene causing venous thrombosis.
Blood Coagul Fibrinolysis. 1995 Apr;6(2):138-40.
- PubMed ID
- 7605880 [ View in PubMed]
- Abstract
Missense mutations, three of them novel (Gly47-->Cys, Arg178-->Pro, Ala259-->Thr), were found in the protein C genes of four patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX and the use of a molecular model of protein C provided explanations as to how these lesions might alter either the structure, function or stability of the protein C molecules encoded.