Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

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 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

Full text not available from this repository.

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: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Springer
ISSN: 0340-6717
Last Modified: 04 Jun 2017 06:33
URI: http://orca.cf.ac.uk/id/eprint/62022

Citation Data

Cited 11 times in Google Scholar. View in Google Scholar

Cited 10 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item