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

Yeling LuHemant GiriBruno O VilloutreixQiulan DingXuefeng WangAlireza R Rezaie

Published in: Journal of thrombosis and haemostasis : JTH (2020)

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.

Keyphrases

end stage renal disease
pulmonary embolism
protein protein
early onset
ejection fraction
chronic kidney disease
newly diagnosed
amino acid
binding protein
prognostic factors
small molecule
patient reported