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3 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; (1995) 3 NOVEL MUTATIONS IN THE PROTEIN-C (PROC) GENE CAUSING VENOUS THROMBOSIS. BLOOD COAGUL FIBRIN , 6 (2) 138 - 140.

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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.

Type: Article
Title: 3 NOVEL MUTATIONS IN THE PROTEIN-C (PROC) GENE CAUSING VENOUS THROMBOSIS
Keywords: VENOUS THROMBOSIS, PROTEIN C DEFICIENCY, MUTATIONS, DEFICIENCY, INTEGRINS, DOMAIN, CDNA
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
URI: http://discovery.ucl.ac.uk/id/eprint/1307979
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