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  • Title: Identification of a His54Gln substitution in von Willebrand factor from a patient with defective binding of factor VIII.
    Author: Rick ME, Krizek DM.
    Journal: Am J Hematol; 1996 Apr; 51(4):302-6. PubMed ID: 8602631.
    Abstract:
    A patient with type 2N ("Normandy" variant) von Willebrand's disease is described. Her von Willebrand factor level was borderline low, while her factor VIII was markedly decreased to 7%. Her plasma von Willebrand factor demonstrated a decreased ability to complex with factor VIII in vitro, binding less than 10% when compared to normal plasma von Willebrand factor. The factor VIII released into the circulation after the patient received DDAVP had a shortened survival in vivo. Nucleotide sequence analysis revealed a T-to-A transition at nucleotide 2451 on both alleles. This transition results in a substitution of Gln for His at amino acid 54 in the mature subunit of von Willebrand factor.
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