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

Millar, D, Bevan, D., Chitolie, A., Reynaud, J., Chisholm, M., Kakkar, V. V. and Cooper, David Neil 1995. Three novel mutations in the protein C (PROC) gene causing venous thrombosis. Blood Coagulation and Fibrinolysis 6 (2) , pp. 138-140. 10.1097/00001721-199504000-00009

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Publisher: Lippincott, Williams & Wilkins
ISSN: 0957-5235
Last Modified: 04 Jun 2017 06:32

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