A patient with von Willebrand’s disease characterized by a compound heterozygosity for a substitution of Arg854 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 - Peerlinck, K; Eikenboom, JCJ; Ploos van Amstel, HK; Sangtawesin, W; Arnout, J; Reitsma, PH; Vermylen, J; Briët, E (Br J Haematol, 1992)