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von Willebrand disease.
Seidizadeh O, Eikenboom JCJ, Denis CV, Flood VH, James P, Lenting PJ, Baronciani L, O'Donnell JS, Lillicrap D, Peyvandi F. Seidizadeh O, et al. Among authors: eikenboom jcj. Nat Rev Dis Primers. 2024 Jul 25;10(1):51. doi: 10.1038/s41572-024-00536-8. Nat Rev Dis Primers. 2024. PMID: 39054329 Review.
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. Br J Haematol. 1992 Mar;80(3):358-63. doi: 10.1111/j.1365-2141.1992.tb08145.x. Br J Haematol. 1992. PMID: 1581215
221 results