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.

    Cited by: 6|Bibtex|Views0|Links
    WOS

    Abstract:

    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

    Code:

    Data:

    Your rating :
    0

     

    Tags
    Comments