Article
A coagulation defect arising from heterozygous premature termination of tissue factor.
The Journal of clinical investigation - 1 Oct 2020
Schulman Sol, El-Darzi Emale, Florido Mary Hc, Friesen Max, Merrill-Skoloff Glenn, Brake Marisa A, Schuster Calvin R, Lin Lin, Westrick Randal J, Cowan Chad A, Flaumenhaft Robert, Ouwehand Willem H, Peerlinck Kathelijne, Freson Kathleen, Turro Ernest, Furie Bruce
Abstract excerpt
Tissue factor (TF) is the primary initiator of blood coagulation in vivo and the only blood coagulation factor for which a human genetic defect has not been described. As there are no routine clinical assays that capture the contribution of endogenous TF to coagulation initiation, the extent to which reduced TF activity contributes to unexplained bleeding is unknown. Using whole genome sequencing, we identified a...
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