A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->Term) causing recurrent venous thrombosis

Millar, David Stuart, Grundy, C. B., Bignell, P., Mitchell, D. C., Corden, D., Woods, P., Kakkar, V. V. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1993. A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->Term) causing recurrent venous thrombosis. Human Genetics 91 (2) , p. 196. 10.1007/BF00222726

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Abstract

A novel heterozygous TGG→TAG (Trp-29 →Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	06 May 2023 01:15
URI:	https://orca.cardiff.ac.uk/id/eprint/62015

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