Molecular basis of quantitative fibrinogen disorders in 27 patients from India.

@article{Sumitha2013MolecularBO,
  title={Molecular basis of quantitative fibrinogen disorders in 27 patients from India.},
  author={E Sumitha and Giridhara Rao Jayandharan and Neeraj Arora and Annie Abraham and Stefan David and Govindanattar Sankari Devi and P. Shenbagapriya and Sukesh Chandran Nair and Biju George and Vikram Mathews and M. Nirmal Chandy and Auro Viswabandya and Alok Prasad Srivastava},
  journal={Haemophilia : the official journal of the World Federation of Hemophilia},
  year={2013},
  volume={19 4},
  pages={
          611-8
        }
}
Congenital fibrinogen deficiency is an extremely rare (1:1 000 000) hereditary bleeding disorder caused by defects in genes coding for fibrinogen Aα-, Bβ- and γ-chains, respectively. We report here the molecular basis of fibrinogen deficiency in a large series of patients from India. Twenty-seven patients with clinical features suggestive of fibrinogen deficiency and with prolonged plasma clotting times and low fibrinogen levels were studied. Genomic DNA was screened for mutations in the… CONTINUE READING
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