Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene

Grundy, C. B., Schulman, S., Krawczak, M., Kobosko, J., Kakkar, V. V. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1992. Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene. Human Genetics 88 (5) , pp. 586-588. 10.1007/BF00219350

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Abstract

A CGA→TGA transition in the protein C gene, resulting in an Arg306→Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely to be identical by descent and probably arose by recurrent mutation.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	27 Oct 2022 08:20
URI:	https://orca.cardiff.ac.uk/id/eprint/62028

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