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Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease.

Shariq AhmedHamideh YadegariArshi NazArijit BiswasUlrich BuddeNazish SaqlainSamina AmanatShehla TariqFazle RaziqShahtaj MasoodAnna PavlovaTahir Sultan ShamsiJohannes Oldenburg
Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2019)
Herein, we reported for the first time, the pattern of gene defects in Pakistani type 3 VWD cohort. We identified a wide heterogeneous mutation spectrum along with variability in the type of bleeding episodes.
Keyphrases
  • atrial fibrillation
  • copy number