Deficiency of protein C in congenital thrombotic disease.

Deficiency of protein C in congenital thrombotic disease.

A family with a history of recurring thrombosis was studied to determine if a plasma protein deficiency could account for the observed disease. Protein C levels in plasma were determined immunologically using the Laurell rocket technique. The propositus, his father, and his paternal uncle, who are severely affected, had 38-49% of normal levels of protein C antigen, whereas unaffected family mem...

Congenital protein C deficiency and thrombotic disease in nine French families.

Investigation of 118 patients for protein C deficiency using an immunological and a functional assay, and subsequent investigation of those (nine) found to be deficient, identified 22 patients (14 women, eight men) with protein C deficiency, of whom six were asymptomatic, 15 had histories of venous thromboembolism, and one had a history of arterial thromboembolism. Protein C deficiency was asso...

Plasma protein S deficiency in familial thrombotic disease.

A family with a history of severe recurrent venous thromboembolic disease was studied to determine if a plasma protein deficiency could account for observed disease. Protein S levels in plasma were determined immunologically using the Laurell rocket technique. The propositus, his mother, his aunt, and his cousin who were clinically affected had 17% to 65% of the control levels of protein S anti...

Protein C deficiency in liver disease.

Protein C is a vitamin K-dependent zymogen of a serine protease that is found in blood plasma. The active form, activated protein C, can inhibit blood coagulation and stimulate fibrinolysis. Protein C is synthesized in the liver as a single chain protein. Its synthesis requires several post-translational modifications including carboxylation of glutamic acid residues, hydroxylation of aspartic ...

Tendon Transfer in Congenital Deficiency of Flexor Pollicis Longus