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The mutation Arg (53) → Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factorJORIEUX, S; TULEY, E. A; GAUCHER, C et al.Blood. 1992, Vol 79, Num 3, pp 563-567, issn 0006-4971Article

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Von Willebrand disease type B : a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein IbRABINOWITZ, I; TULEY, E. A; MANCUSO, D. J et al.Proceedings of the National Academy of Sciences of the United States of America. 1989, Vol 89, Num 20, pp 9846-9849, issn 0027-8424Article

Type IIB mutation His-505→Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein IbRABINOWITZ, I; RANDI, A. M; SHINDLER, K. S et al.The Journal of biological chemistry (Print). 1993, Vol 268, Num 27, pp 20497-20501, issn 0021-9258Article

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Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene : family studies that identify carriers of the condition and a compound heterozygous individualPEAKE, I. R; LIDDELL, M. B; BLOOM, A. L et al.Blood. 1990, Vol 75, Num 3, pp 654-661, issn 0006-4971Article

Structure of the gene for human von Willebrand factorMANCUSO, D. J; TULEY, E. A; WESTFIELD, L. A et al.The Journal of biological chemistry (Print). 1989, Vol 264, Num 33, pp 19514-19527, issn 0021-9258, 14 p.Article