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March 1, 1992British Journal of Haematology

A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg by Gln in the putative factor‐VIII‐binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele

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Authors

KPKathelijne PeerlinckKU LeuvenJEJeroen EikenboomLeiden University Medical CenterHPHans K. Ploos

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Peerlinck et al. (1992) studied this question.

synapsesocial.com/papers/6a751c8bf1e99ff85ab1d941https://doi.org/10.1111/j.1365-2141.1992.tb08145.x
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Measurement of von Willebrand Factor Antigen in Plasma and Platelets with an Enzyme-Linked Immunosorbent Assay Based on Two Murine Monoclonal Antibodies2009 · 18 citations
  2. 2Detection of Heterozygotes for Recessive von Willebrand's Disease by the Assay of Antihemophilic-Factor-like Antigen1973 · 74 citations
  3. 3The complex multimeric composition of factor VIII/von Willebrand factor1981 · 569 citations
  4. 4Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.1988 · 101 citations
  5. 5Antihemophilic Factor: Separation of an Active Fragment Following Dissociation by Salts or Detergents1972 · 187 citations