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.
Three novel PROC gene lesions causing protein C deficiency / P.J. Hallam, P. Mannucci, A. Tripodi, D. Bevan, B. Laursen, L. Tengborn, A. Wacey, D.N. Cooper. - In: CLINICAL GENETICS. - ISSN 0009-9163. - 54:3(1998), pp. 231-233.
Three novel PROC gene lesions causing protein C deficiency
A. Tripodi;
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.
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