Gly197Arg mutation in protein C causes recurrent thrombosis in a heterozygous carrier.

CONCLUSION: The G197R mutation in patients appears to be functionally equivalent to a heterozygous protein C knockout with half of the protein having no significant activity and thus causing thrombosis.
PMID: 32078247 [PubMed - as supplied by publisher]

Source: Thrombosis and Haemostasis - February 19, 2020 Category: Hematology Authors: Lu Y, Giri H, Villoutreix BO, Ding Q, Wang X, Rezaie AR Tags: J Thromb Haemost Source Type: research