Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu.

@article{Hilbert1998IdentificationON,
  title={Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu.},
  author={Lysiane Hilbert and Christine Gaucher and J F Abgrall and Armelle Parquet and Christine Trzeciak and Claudine Mazurier},
  journal={British journal of haematology},
  year={1998},
  volume={103 3},
  pages={877-84}
}
We report the identification in five patients (three families) affected with type 2B von Willebrand disease (VWD) of three heterozygous nucleotide substitutions at the codon for arginine 543, 545 and 578 of the mature von Willebrand factor (VWF) subunit resulting in a glutamine, proline and leucine substitution, respectively. These mutations are located in the A1 loop where prevalent type 2B mutations (Arg543Trp, Arg545Cys and Arg578Gln) have been already identified at the same positions. By in… CONTINUE READING

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