Three novel PROC gene lesions causing protein C deficiency |
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| Authors: | PJ Hallam P Mannucci A Tripodi D Bevan B Lawsen L Tengborn A Wacey DN Coopel |
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| Institution: | Molecular Haematology Unit, St Bartholomew's and the Royal London School of Medicine and Dentistry, Turner Street, London El 2AD, UK;A. Bianchi Eonorni Hemophilia and Thrombosis Center, Ma Pace 9, 20122 Mitano, Italy;Haematology Department, St George's Hospital, Blackshaw Road, London SW17 OOT, UK;Haematology Department, Aalborg Hospital, 9100 Aalborg, Denmark;Department of Medicine, Sahlgren's Hospital, 41345 Göteborg, Sweden;Thrombosis Research Institute, Manresa Road, London SW3 6LR. UK;Institute of Medical Genetics, Universlty of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK |
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| Abstract: | Hallam PJ, Mannucci P, Tripodi A, Bevan D, Laursen B, Tengborn L, Wacey A, Cooper DN. Three novel PROC gene lesions causing protein C deficiency. Clin Genet 1998: 54: 231–233. 0 Munksgaard, 1998
Missense mutations. three of them novel (Am210→Val, Asn248→ Ile, Ah355→Val), were found in the protein c ( PROC ) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing hdernophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded. |
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| Keywords: | gene mutations protein C deficiency venous thrombosis |
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