Three novel PROC gene lesions causing protein C deficiency

Hallam, P. J., Manucci, P., Tripodi, A., Bevan, D., Laursen, B., Tengborn, L., Wacey, A. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1998. Three novel PROC gene lesions causing protein C deficiency. Clinical Genetics 54 (3) , pp. 231-233. 10.1111/j.1399-0004.1998.tb04290.x

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Publisher:	Wiley-Blackwell
ISSN:	0009-9163
Last Modified:	25 Oct 2022 10:14
URI:	https://orca.cardiff.ac.uk/id/eprint/61534

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