Symptomatic type 1 protein C deficiency caused by a de novo Ser270Leu mutation in the catalytic domain
British journal of haematology, Volume 113, Issue 3, 2001, Pages 642-648.
Heterozygosity for a C8524T transition in the protein C gene converting Ser270(TCG) to Leu(TTG) in the protease domain was identified in a family with venous thrombosis. The mutation was associated with parallel reduction in plasma levels of protein C anticoagulant activity and protein C antigen, which is consistent with a type 1 deficien...More
Full Text (Upload PDF)
PPT (Upload PPT)