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    Blood Coagul Fibrinolysis. 1995 Apr;6(2):138-40.

    Three novel mutations in the protein C (PROC) gene causing venous thrombosis.

    Millar DS, Bevan D, Chitolie A, Reynaud J, Chisholm M, Kakkar VV, Cooper DN.

    Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.

    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.

    PMID: 7605880 [PubMed - indexed for MEDLINE]

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