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Three novel PROC gene lesions causing protein C deficiency
P J Hallam1, P Mannucci, A Tripodi
1Molecular Haematology Unit, St Bartholomew's and the Royal London School of Medicine and Dentistry, UK.
Clinical Genetics
|October 27, 1998
Abstract:
Missense mutations, three of them novel (Asn210-->Val, Asn248-->Ile, Ala355-->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 haemophilia 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.