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 ORCID: https://orcid.org/0000-0002-8943-8484 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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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.

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:	27 Oct 2022 08:16
URI:	https://orca.cardiff.ac.uk/id/eprint/61778

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