In a Danish population, a PROC gene variant was identified in 67% of participants previously diagnosed with protein C deficiency.Five variants were novel.
The fusion protein recapitulates the functional and structural properties of the thrombin-thrombomodulin complex, prolongs the clotting time by generating pharmacological quantities of activated protein C and effectively diagnoses protein C deficiency in human plasma.
Our report lengthens the list of male acroangiodermatitis of Mali cases with a Chinese patient harboring a novel PROC mutation with manifest protein C deficiency.
Activated protein C concentrate treatment for skin necrosis under warfarin treatment in severe genetic protein C deficiency combined with prothrombin mutation and factor V Leiden.
The coagulopathy in protein C deficiency is caused by impaired inactivation of factors Va and VIIIa by activated protein C after the propagation phase of coagulation activation.
Taken together, R147W mutation is a significant thrombotic risk factor and is the most common defect of PROC gene in Taiwanese patients with protein C deficiency.
The authors report the use of recombinant activated protein C (APC) to treat an episode of purpura fulminans (PF) in a teenage girl with severe protein C deficiency who had developed anaphylaxis to fresh-frozen plasma that was given in the past to treat recurrent episodes of PF.
Taken together, R147W mutation is a significant thrombotic risk factor and is the most common defect of PROC gene in Taiwanese patients with protein C deficiency.
Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G --> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency.
Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene.