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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 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: 16 Apr 2019 20:52
URI: http://orca.cf.ac.uk/id/eprint/62015

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