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, J C; Ploos van Amstel, HK (Br J. Haematol, 1992)
et al.