A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis

Grundy, Catherine B., Chisholm, Morag, Kakkar, VijayV. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1992. A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. Human Genetics 89 (6) , pp. 683-684. 10.1007/BF00221963

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Abstract

A novel homozygous CCC→CTC (Pro 247→ Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	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/62022

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