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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 JC, Ploos Van Amstel HK, Sangtawesin W, Arnout J, Reitsma PH, Vermylen J, Briët E. Peerlinck K, et al. Among authors: eikenboom jc. Br J Haematol. 1992 Mar;80(3):358-63. doi: 10.1111/j.1365-2141.1992.tb08145.x. Br J Haematol. 1992. PMID: 1581215
258 results