Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression.

@article{Krijanovski2003CharacterizationOM,
  title={Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression.},
  author={Yelena Krijanovski and Val{\'e}rie Proulle and Fakhri Mahdi and Marie Dreyfus and Werner M{\"u}ller-Esterl and Alvin H Schmaier},
  journal={Blood},
  year={2003},
  volume={101 11},
  pages={
          4430-6
        }
}
A 6-year-old male with vertebral-basilar artery thrombosis was recognized to have high-molecular-weight kininogen (HK) deficiency. The propositus had no HK procoagulant activity and antigen (< 1%). Using monoclonal antibodies (Mabs) to kininogen domain 3, the propositus, family members, and Fitzgerald plasma were determined to have detectable low-molecular-weight kininogen. Mabs to HK domains 5 and 6 do not detect HK antigen in the propositus' plasma. The propositus has a single base pair (bp… CONTINUE READING

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