Mutation References


  • Allen, S., Abuzenadah, A.M., Blagg, J.L., Hinks, J., Nesbitt, I.M., Goodeve, A.C., Gursel, T., Ingerslev, J., Peake, I.R., Daly, M.E., Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood 2000; 95: 2000-7. Pubmed
  • Bahnak, B.R., Lavergne, J-M., Rothschild, C., Meyer, D., A stop codon in a patient with severe Type III von Willebrand disease. Blood 1991; 78: 1148-1149. Pubmed
  • Baronciani, L., Cozzi, G., Canciani, M.T., Peyvandi, F., Srivastava, A., Federici, A.B., Mannucci, P.M. Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease. Thrombosis Haemostasis 2000; 84: 536-540. Pubmed
  • Baronciani, L., Cozzi, G., Canciani, M.T., Peyvandi, F., Srivastava, A., Federici, A.B., Mannucci, P.M. Molecular defects in type 3 von Willebrand disease: an updated results from 40 multiethnic patients. Blood Cells, Molecules, and Diseases 2003; 30: 264-270. Pubmed
  • Bernardi, F., Marchetti, G., Guerra, S., Casonato, A., Gemmati, D., Patracchini, P., Ballerini, G., Conconi, F., A de novo and heterozygous gene deletion causing a variant of von Willebrand disease. Blood 1990; 75: 677-683. Pubmed
  • Bowen, D.J., Standen, G.R., Bignell, P., Peake, I.R., A C->T transition in the gene for von Willebrand factor effects the replacement of ARG 1597 (CGG) with TRP (TGG) in affected members of a family with type IIA von Willebrand's disease. Br J Haematol 1990; 76(Suppl. 1): 36.
  • Cacheris, P.M., Nichols, W.C., Ginsburg, D., Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction. J Biol Chem 1991; 266: 13499-13502. Pubmed
  • Caron, C., Mazurier, C., Goudemand, J. Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents. Br J Haematol. 2002; 117: 716-8. Pubmed
  • Casana, P., Lorenzo, J.I., Matinez, F., Haya, S., Montoro, J.M., Aznar, J.A., Single-Strand conformation polymorphism analysis in the A1 domain of the von Willebrand factor gene. Thromb Haemost 1997 suppl.#2675, p655.
  • Casana, P., Martinez, F., Espinos, C., Haya, S., Lorenzo, J.I., and Aznar, J.A., Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene. New Mutations, R1315C and R1341W, associated with type 2M and 2B variants. Am. J. Hematol (1998) 57:57-63. Pubmed
  • Casana, P., Martinez, F., Haya, S., and Aznar, J.A., Identification of a new candidate mutation, G1629R, in a family with type 2A von WIllebrand disease. Am. J. Hematol (1999) 60:309-310. Pubmed
  • Casaña P, Martinez F, Haya S, Lorenzo JI, Espinós C, Aznar JA. Q1311X: A novel nonsense mutation of putative ancient origin in the von Willebrand factor gene. Br J Haematol. 111: 552-555, (2000).
  • Casaña P, Martínez F, Haya S, Espinós C, Aznar JA. Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant Type 1 von Willebrand's disease. Ann Hematol; 80: 381-383 (2001).
  • Casaña P, Martínez F, Haya S, Tavares A, Aznar JA. New mutations in the exon 28 of VWF gene detected in patients with different types of von Willebrand disease. Haematologica; 86: 414-419 (2001).
  • Castaman, G., Eikenboom, C.J.C., Rodeghiero, F., Briet, K., Reitsma, P.H., A novel candidate mutation (Arg611->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin induced thrombocytopenia. Br. J. Haematol. 89:656-658 (1995).
  • Celikel, R., Ruggeri, Z.M., Varughese K.I., Modulation of von Willebrand factor conformation and adhesive function by an internalized water molecule. Nature Structural Biology 2000;7:881-884.
  • Chang, H-Y, Chen, Y-P, Chediak, J.R., Levene, R.B., Lynch, D.C., Molecular analysis of von Willebrand factor produced by endothelial cell strains from patients with Type IIA von Willebrand disease. Blood 1989; 74 (Suppl.1): 482a.
  • Christophe, O., Ribba, A.S., Baruch, D., Obert, B., Rouault, C., Niiomi, K., Pietu, G., Meyer, D., and Girma, J. P., Influence of mutations and size of multimers in type II von Willebrand disease upon the function of von Willebrand factor. Blood (1994) 83:3553-3561.
  • Cooney, K.A., Lyons, S.E., Ginsburg, D., Functional analysis of a type IIB von Willebrand disease missense mutation: Increased binding of large von Willebrand factor multimers to platelets. Proc Natl Acad Sci USA 1992; 89: 2869-2872.
  • Cooney, K.A., Nichols, W.C., Bruck, M.E., Bahou, W.F., Shapiro, A.D., Bowie, E.J.W., Gralnick, H.R., Ginsburg, D., The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. J Clin Invest 1991; 87: 1227-1233.
  • de Romeuf, C., Gaucher, A., Parquet, P., Baillod, M., Hanss, C., Mazurier, C., "Platelet discordant" types 1 and 2 von Willebrand disease may result from diminished plasma von Willibrand factor disappearance time. Thromb Haemost 1997; abst 2681.
  • Donner, M., Andersson, A.M., Kristoffersson, A.C., Nilsson, I.M., Dahlback, B., Holmberg, L., An Arg545->Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease. Eur J Haematol 1991; 47: 342-345.
  • Donner, M., Kristoffersson, A.C., Lenk, H., Scheibel, E., Dahlback, B., Nilsson, I.M., Holmberg, L., Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden. Br J Haematol (1992) 82(1):58-65. Pubmed
  • Donner, M., Kristoffersson, A-C., Berntorp, E., Scheibel, E., Thorsen, S., Dahlback, B., Nilsson, I. M., and Holmberg, L., Two new candidate mutations in type IIA von Willebrand's disease ARG834->GLY, GLY846->ARG and one polymorphism TYR821-->CYS in the A2 region of the von Willebrand factor. Eur. J. Haematol (1993) 51:38-44.
  • Eikenboom, J.C.C., Matsushita, T., Reitsma, P.H., Tuley, E.A., Castaman, G., Briet, E., Sadler, J.E., Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood 1996; 88:2433-2441
  • Eikenboom, J.C.J., Briët, E., Reitsma, P.H., Ploos van Amstel, H.K., Severe Type III von Willebrand's disease in the Dutch population is often associated with the absence of von Willebrand factor messenger RNA. Thromb Haemost 1991; 65: 1127.
  • Eikenboom, J.C.J., Castman, G., Vos, Hans L., Bertina, R. M., Rodeghiero, F., Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemostas 1998, 79:709-717
  • Eikenboom, J.C.J., Ploos van Amstel, H.K., Reitsma, P.H., Briet, E., Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense mutations associated with with reduced levels of von Willebrands factor mRNA. Thromb. Haemost. 68:448-454 (1992).
  • Eikenboom, J.C.J., Reitsma, P.H., Briet, E., Seeming homozygosity in type IIB von Willebrand's due to a polymorphism within the sequence of a commonly used primer. Ann. Hematol. 68:139-141 (1994).
  • Eikenboom, J.C.J., Reitsma, P.H., Peerlinck, K.M.J., Briet, E., Recessive inheritance of von Willebrand's disease type I. Lancet 341:982-986 (1993)
  • Federici, A.B., Mannucci, P.M., Stabile, F., Canciani, M.T., Di Rocco, N., Miyata, S., Ware, J., Ruggeri, Z.M., A type 2B von Willebrand disease mutation (Ile546Val) associated with an unusual phenotype. Thromb. Haemost. 1997;78:1132-1137.
  • Gaucher, C., and Mazurier, C., Phenotype IIC vWD: the expression of three mutantrecombinant vWF confirms the importance of the D2 domain of vWF propeptide in the multimer assembly process. Br. J. Haematol 1996,93,sup2,15 (abs58).
  • Gaucher, C., and Mazurier, C., Phenotype IIC vWD: the expression of three mutantrecombinant vWF confirms the importance of the D2 domain of vWF propeptide in the multimer assembly process. Br. J. Haematol 1996,93,sup2,15 (abs58). Armitage, H., and Rizza, C.R., Two populations of factor VIII-related antigen in a family with vWD. Br. J. Haematol. 1979, 41, 279-289.
  • Gaucher, C., Dieval, J., and Mazurier, C., Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease. Blood (1994) 84:1024-1030.
  • Gaucher, C., Hanss, M., Dechavanne, M., Mazurier, C., Substitution of Cysteine for Phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease. Br J Haematol 1993; 83:94-99
  • Gaucher, C., Hilbert, L., Meriane, F., Mazurier, C., Pernod, G., Type 2 von Willebrand disease resulting from an insertion or deletion in the 509-695 disulphide loop of von Willebrand factor. Thromb. Haemost. (1995) 73, 1168.
  • Gaucher, C., Jorieux, S., Mercier, B., Oufkir, D., Mazurier, C., The "Normandy" variant of von Willebrand disease: Characterization of a point mutation in the von Willebrand factor gene. Blood 1991; 77: 1937-1941.
  • Gaucher, C., Mercier, B., Jorieux, S., Oufkir, D., Mazurier, C., Identification of two point mutations in the von Willebrand factor gene of three families with the `Normandy' variant of von Willebrand disease. Br J Haematol 1991; 78: 506-514.
  • Gaucher, C., Parquet, A., Baillod, M., Hanss, C., Mazurier, C., Mutations localized in the D3 domain of von Willebrand factor are identified in patients classified in type 1 or 2A von Willebrand disease. Thromb Haemost 1997; abst 1583.
  • Gazda, H., Budde, U., Krey, S., Rokicka-Milewska, and Schneppenheim, R., Delta C in exon 18 of the von Willebrand Factor gene is the most common mutation in patients with severe von Willebrand disease type 3 in Poland. Blood 1997 Suppl. pg. 94b.
  • Ginsburg, D., Konkle, B.A., Gill, J.C., Montgomery, R.R., Bockenstedt, P.L., Johnson, T.A., Yang, A.Y., Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA. Proc Natl Acad Sci USA 1989; 86: 3723-3727.
  • Gu, J.,Jorieux, S., Lavergne, J.M., Ruan, C., Mazurier, C., Meyer, D., A patient with type 2N von Willebrand disease is heterozygous for a new mutation: Gly22Glu. Demonstration of a defective expression of the second allele by the use of monoclonal antibodies. Blood 1997; 89(9):3263-3269.
  • Hagiwara, T., Inaba, H., Yoshida, S., Nagaizumi, K., Arai, M., Hanabusa, H., and Fukutake, K., A novel mutation Gly1672->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease. Thromb.Haemost 76:253-257, 1996
  • Hilbert, L., Degallaix, F., Jorieux, S., Gaucher, C., Proulle, V., Meyer, D., Mazurier, C., and the INSERM network on molecular abnormalities in vWD, Identification d'une nouvelle mutation (Gln290His) vWD 2N. Arch Mal Coeur Avril 1998, 91,Abst 20.3 p508.
  • Hilbert, L., Gaucher, C., and Mazurier, C., Effects of different amino-acid substitutions in the leucine 694 - proline 708 segment of recombinant von Willebrand factor. Br. J. Haematol. 1995, 91, 983-90.
  • Hilbert, L., Gaucher, C., and Mazurier, C., Identification of two mutations in the A1 loop of vWF responsible for type 2 vWD with decreased platlet-dependent function. Blood 1995, 86, 1010-1018.
  • Hilbert, L., Gaucher, C., de Romeuf, C., Horellou, M.H., Vink, T., Mazurier, C., Leu 697->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. Blood (1994) 83(6):1542-50.
  • Hilbert, L., Gaucher, C., De Romeuf, C., Parquet, A., Abgrall, J.F., Trzeciak, C., and Mazurier, C., Identification of "new" type 2B vWD mutations: R543Q, R545P and R578L. Br. J. Haematol 1996,93 sp.2,310(abs1175).
  • Hilbert, L., Gaucher, C., Fressinaud, E., Meyer, D., Mazurier, C., INSERN network on molecular abnormalities in vWD, A new type 2M ("type B") vWD mutation (G1324A) also at position 561 of the mature vWF subunit.. Throb. Haemost. 1997 suppl#2670 p 654.
  • Hilbert, L., Gaucher, C., Sie, P., and Mazurier, C., Expression of type 2A vWD mutations. Identification of new mutation: L817P. Br. J. Haematol 1996,93 supp 2,17(abs 65).
  • Hilbert, L., Ruan, S., Jorieux, M., Fontenay-Roupie, N., Stielje, S., Lavergne, J.M., Lavergne, E., Fressinaud, D., Meyer, C. and the ISERM network on, Identification of two closely located new type 2N von Willebrand disease mutations (try32Cys and Met37Val). Thromb Haemost 1999 abst 882.
  • Hillery CA, Mancuso DJ, Sadler JE, Ponder JW, Jozwiak MA, Christopherson PA, Gill JC, Scott JP, and Montgomery RR: Type 2M von Willebrand Disease: F606I and I662F, mutations in the glycoprotein Ib binding domain selectively impair ristocetin, but not botrocetin-mediated binding of von Willebrand factor to platelets. Blood 91(5):1572-1581, 1998.
  • Holmberg, L., Dent, J.A., Schneppenheim, R., Budde, U., Ware, J., Ruggeri, Z.M., von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. J Clin Invest (1993) 91(5):2169-77.
  • Holmberg, L., Donner, M., Dahlback, B., Nilsson, I.M., Apparently recessive IIB von Willebrand disease (vWD) is caused by de novo mutations (ARG543->TRP; VAL551->LEU). Blood 1991;78 (Suppl.1):150a.
  • Holmberg, L., Donner, M., Dahlback, B., Nilsson, I.M., Apparently recessive IIB von Willebrand disease (vWD) is caused by de novo mutations (ARG543->TRP; VAL551->LEU). Blood 1991;78 (Suppl.1):150a.
  • Holmberg, L., Karpman, D., Isaksson, C., Kristoffersson, A.C., Lethagen, S., Schneppenheim, R. Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease. Thromb Haemost (1998) 79(4):718-22. Pubmed
  • Iannuzzi, M.C., Hidaka, N., Boehnke, M.L., Bruck, M.E., Hanna, W.T., Collins, F.S., Ginsburg, D., Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). Am J Hum Genet 1991; 48: 757-763. Lyons, S.E., Cooney, K.A., Bockenstedt, P., Ginsburg, D., Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations. Blood (1994) 83(6):1551-7.
  • Inbal, A., Englender, T., Kornbrot, N., Randi, A.M., Castaman, G., Mannucci, P.M., Sadler, J.E., Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method. Blood (1993) 82(3):830-6
  • Inbal, A., Seligsohn, U., Kornbrot, N., Brenner, B., Harrison, P., Randi, A., Rabinowitz, I., Sadler, J.E., Characterization of three mutations causing von Willebrand disease type IIA in five unrelated families. Thromb Haemost 1992; 67: 618-622.
  • Jorieux, S., Gaucher, C., Fressinaud, E., Goudemand, J., Meyer, C., Mazurier, C., and the INSERM network on molecular abnormalities in vWD, Mutations of cysteine residues 25 and 95 of mature von Willebrand factor induce type 2N von Willebrand disease. Thromb. Haemost. 1997 Suppl#1586 p389.
  • Jorieux, S., Gaucher, C., Parquet-Gernez, A., Goudemand, J., Mazurier C., A new mutation Cys->Arg at position 297 of mature vWF is identified in several patients with decreased FVIII binding capacity of vWF. Thromb. Haemost. 1997 Suppl#2668 p 654.
  • Jorieux, S., Gaucher,C., Goudemand, J., and Mazurier, C., A novel mutationn in the D3 domain of vWF abolishes the FVIII binding and affects the multimerization. Haemophilia 1996, v2. s1. Abst 329.
  • Jorieux, S., Tuley, E.A., Gaucher, C., Mazurier, C., Sadler, J.E., The mutation Arg(53)->Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor. Blood 1992; 79: 563-567.
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  • Kroner, P.A., Friedman, K.D., Fahs, S.A., Scott, J.P., Montgomery, R.R., Abnormal binding of Factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease. J Biol Chem 1991; 266:19146-19149.
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  • Rabinowitz, I., Tuley, E.A., Mancuso, D.J., Randi, A.M., Firkin, B.G., Howard, M.A., Sadler, J. E., A missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib. Proc Natl Acad Sci USA 1992;89:9846-9849.
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