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Volumn 24, Issue 1, 2004, Pages 27-36

Classification of von Willebrand disease;Klassifikation des von-Willebrand-syndroms

Author keywords

Von Willebrand disease

Indexed keywords

GENE PRODUCT; VON WILLEBRAND FACTOR;

EID: 1242308316     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1619603     Document Type: Review
Times cited : (12)

References (56)
  • 1
    • 0034653497 scopus 로고    scopus 로고
    • Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
    • Allen S, Abuzenadah AM, Blagg JL et al. 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; 956: 2000-7.
    • (2000) Blood , vol.956 , pp. 2000-2007
    • Allen, S.1    Abuzenadah, A.M.2    Blagg, J.L.3
  • 2
    • 0034661897 scopus 로고    scopus 로고
    • A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in detective multimerization and secretion
    • Allen S, Abuzenadah AM, Hinks J et al. A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in detective multimerization and secretion. Blood 2000; 962: 560-8.
    • (2000) Blood , vol.962 , pp. 560-568
    • Allen, S.1    Abuzenadah, A.M.2    Hinks, J.3
  • 3
    • 0026004397 scopus 로고
    • A stop codon in a patient with severe type III von Willebrand disease
    • Bahnak BR, Lavergne JM, Rothschild C et al. A stop codon in a patient with severe type III von Willebrand disease. Blood 1991; 78: 1148-9.
    • (1991) Blood , vol.78 , pp. 1148-1149
    • Bahnak, B.R.1    Lavergne, J.M.2    Rothschild, C.3
  • 4
    • 0022494191 scopus 로고
    • An ELISA test for the binding of von Willebrand antigen to collagen
    • Brown JE, Bosak JO. An ELISA test for the binding of von Willebrand antigen to collagen. Thromb Res 1986; 43: 303-11.
    • (1986) Thromb Res , vol.43 , pp. 303-311
    • Brown, J.E.1    Bosak, J.O.2
  • 5
    • 85087240620 scopus 로고    scopus 로고
    • An improved multimeric analysis identifies a subgroup of patients with type 1 von Willebrand disease characterized by reduced VWF:RCo/Ag ratio
    • Budde U, Castaman G, Peake I et al. An improved multimeric analysis identifies a subgroup of patients with type 1 von Willebrand disease characterized by reduced VWF:RCo/Ag ratio. Thromb Haemost 2003; 1 (Suppl 1):P0088.
    • (2003) Thromb Haemost , vol.1 , Issue.SUPPL. 1
    • Budde, U.1    Castaman, G.2    Peake, I.3
  • 6
    • 0025766750 scopus 로고
    • Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction
    • Cacheris PM, Nichols WC, 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: 13499-502.
    • (1991) J Biol Chem , vol.266 , pp. 13499-13502
    • Cacheris, P.M.1    Nichols, W.C.2    Ginsburg, D.3
  • 7
    • 0025869633 scopus 로고
    • The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain
    • Cooney KA, Nichols WC, Bruck ME et al. 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; 874: 1227-33.
    • (1991) J Clin Invest , vol.874 , pp. 1227-1233
    • Cooney, K.A.1    Nichols, W.C.2    Bruck, M.E.3
  • 8
    • 0025044664 scopus 로고
    • Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor
    • Dent JA, Berkowitz SD, Ware J et al. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci USA 1990; 87: 6306-10.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 6306-6310
    • Dent, J.A.1    Berkowitz, S.D.2    Ware, J.3
  • 9
    • 0031957351 scopus 로고    scopus 로고
    • Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin
    • Eikenboom JC, Castaman G, Vos HL et al. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost 1998; 794: 709-17.
    • (1998) Thromb Haemost , vol.794 , pp. 709-717
    • Eikenboom, J.C.1    Castaman, G.2    Vos, H.L.3
  • 10
    • 0026775617 scopus 로고
    • Mutations in severe, type III von Willebrand's disease in the Dutch population: Candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA
    • Eikenboom JC, Ploos-van-Amstel HK, Reitsma PH et al. Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA. Thromb Haemost 1992; 68: 448-54.
    • (1992) Thromb Haemost , vol.68 , pp. 448-454
    • Eikenboom, J.C.1    Ploos-Van-Amstel, H.K.2    Reitsma, P.H.3
  • 11
    • 0028040776 scopus 로고
    • Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease
    • Gaucher C, Dieval J, Mazurier C. Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease. Blood 1994; 844: 1024-30.
    • (1994) Blood , vol.844 , pp. 1024-1030
    • Gaucher, C.1    Dieval, J.2    Mazurier, C.3
  • 12
    • 0025817840 scopus 로고
    • The »Normandy« variant of von Willebrand disease: Characterization of a point mutation in the von Willebrand factor gene
    • Gaucher C, Jorieux S, Mercier B et al. The »Normandy« variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene. Blood 1991; 77: 1937-41.
    • (1991) Blood , vol.77 , pp. 1937-1941
    • Gaucher, C.1    Jorieux, S.2    Mercier, B.3
  • 13
    • 0021844825 scopus 로고
    • Human von Willebrand factor (VWF): Isolation of complementary DNA (cDNA) clones and chromosomal localization
    • Ginsburg D, Handin RI, Bonthron DT et al. Human von Willebrand factor (VWF): isolation of complementary DNA (cDNA) clones and chromosomal localization. Science 1985; 228: 1401-6.
    • (1985) Science , vol.228 , pp. 1401-1406
    • Ginsburg, D.1    Handin, R.I.2    Bonthron, D.T.3
  • 14
    • 0024669945 scopus 로고
    • Molecular basis of human von Willebrand disease: Analysis of platelet von Willebrand factor mRNA
    • Ginsburg D, Konkle BA, Gill JC et al. Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA. Proc Natl Acad Sci USA 1989; 86: 3723-7.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 3723-3727
    • Ginsburg, D.1    Konkle, B.A.2    Gill, J.C.3
  • 15
    • 0015495140 scopus 로고
    • Genetic variants of von Willebrand's disease
    • Holmberg L, Nilsson IM. Genetic variants of von Willebrand's disease. Br Med J 1972; 3: 317-20.
    • (1972) Br Med J , vol.3 , pp. 317-320
    • Holmberg, L.1    Nilsson, I.M.2
  • 16
    • 0031596758 scopus 로고    scopus 로고
    • Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease
    • Holmberg L, Karpman D, Isaksson C et al. Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease. Thromb Haemost 1998; 794: 718-22.
    • (1998) Thromb Haemost , vol.794 , pp. 718-722
    • Holmberg, L.1    Karpman, D.2    Isaksson, C.3
  • 17
    • 1242293600 scopus 로고    scopus 로고
    • www.shef.ac.uk/vwf/
  • 18
    • 0034658433 scopus 로고    scopus 로고
    • Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment
    • Jorieux S, Fressinaud E, Goudemand J et al. Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment. Blood 2000; 9510: 3139-45.
    • (2000) Blood , vol.9510 , pp. 3139-3145
    • Jorieux, S.1    Fressinaud, E.2    Goudemand, J.3
  • 19
    • 0032535054 scopus 로고    scopus 로고
    • A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization
    • Jorieux S, Gaucher C, Goudemand J et al. A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization. Blood 1998; 9212: 4663-70.
    • (1998) Blood , vol.9212 , pp. 4663-4670
    • Jorieux, S.1    Gaucher, C.2    Goudemand, J.3
  • 20
    • 0026002404 scopus 로고
    • 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
    • Kroner PA, Friedman KD, Fahs SA et al. 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: 19146-9.
    • (1991) J Biol Chem , vol.266 , pp. 19146-19149
    • Kroner, P.A.1    Friedman, K.D.2    Fahs, S.A.3
  • 21
    • 0021879269 scopus 로고
    • Molecular cloning of cDNA for human von Willebrand factor: Authentication by a new method
    • Lynch DC, Zimmerman TS, Collins CJ et al. Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method. Cell 1985; 41: 49-56.
    • (1985) Cell , vol.41 , pp. 49-56
    • Lynch, D.C.1    Zimmerman, T.S.2    Collins, C.J.3
  • 22
    • 0026630044 scopus 로고
    • Impaired intracellular transport produced by a subset of type, IIA von Willebrand disease mutations
    • Lyons SE, Bruck ME, Bowie EJ et al. Impaired intracellular transport produced by a subset of type, IIA von Willebrand disease mutations. J Biol Chem; 1992; 267: 4424-30.
    • (1992) J Biol Chem , vol.267 , pp. 4424-4430
    • Lyons, S.E.1    Bruck, M.E.2    Bowie, E.J.3
  • 23
    • 0024331438 scopus 로고
    • Structure of the gene for human von Willebrand factor
    • Mancuso DJ, Tuley EA, Westfield LA et al. Structure of the gene for human von Willebrand factor. J Biol Chem 1989; 264: 19514-27.
    • (1989) J Biol Chem , vol.264 , pp. 19514-19527
    • Mancuso, D.J.1    Tuley, E.A.2    Westfield, L.A.3
  • 24
    • 0017587802 scopus 로고
    • Enzyme-linked immunoabsorbent assay of factor VIII-related antigen. Interest in study of Von Willebrands disease
    • Mazurier C, Parquet Gernez A, Goudemand M. Enzyme-linked immunoabsorbent assay of factor VIII-related antigen. Interest in study of Von Willebrands disease. Pathol Biol Paris 1977; 25: 18-24.
    • (1977) Pathol Biol Paris , vol.25 , pp. 18-24
    • Mazurier, C.1    Parquet Gernez, A.2    Goudemand, M.3
  • 25
    • 0030836531 scopus 로고    scopus 로고
    • Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: From the patient to the gene
    • INSERM Network on Molecular Abnormalities in von Willebrand Disease
    • Meyer D, Fressinaud E, Gaucher C et al. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease. Thromb Haemost 1997; 781: 451-6.
    • (1997) Thromb Haemost , vol.781 , pp. 451-456
    • Meyer, D.1    Fressinaud, E.2    Gaucher, C.3
  • 26
    • 0022345857 scopus 로고
    • A modified SDS agarose gel method for determining factor VIII von Willebrand factor multimers using commercially available reagents
    • Miller MA, Palascak JE, Thompson MR et al. A modified SDS agarose gel method for determining factor VIII von Willebrand factor multimers using commercially available reagents. Thromb Res 1985; 39: 777-80.
    • (1985) Thromb Res , vol.39 , pp. 777-780
    • Miller, M.A.1    Palascak, J.E.2    Thompson, M.R.3
  • 27
    • 0023990346 scopus 로고
    • Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease
    • Ngo KY, Glotz VT, Koziol JA et al. Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. Proc Natl Acad Sci USA 1988; 85: 2753-7.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 2753-2757
    • Ngo, K.Y.1    Glotz, V.T.2    Koziol, J.A.3
  • 28
    • 0034532364 scopus 로고    scopus 로고
    • Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: A reappraisal using phenotypes, genotypes and molecular modelling
    • Nitu-Whalley IC, Riddell A, Lee CA et al. Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: a reappraisal using phenotypes, genotypes and molecular modelling. Thromb Haemost 2000; 84: 998-1004.
    • (2000) Thromb Haemost , vol.84 , pp. 998-1004
    • Nitu-Whalley, I.C.1    Riddell, A.2    Lee, C.A.3
  • 29
    • 0025732427 scopus 로고
    • Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences
    • Randi AM, Rabinowitz I, Mancuso DJ et al. Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. J Clin Invest 1991; 874: 1220-6.
    • (1991) J Clin Invest , vol.874 , pp. 1220-1226
    • Randi, A.M.1    Rabinowitz, I.2    Mancuso, D.J.3
  • 30
    • 0002459799 scopus 로고
    • Classification of von Willebrand Disease
    • Verstraete M, Vermylen J, Lijnen R et al. (eds). Leuven: Leuven University Press
    • Ruggeri ZM. Classification of von Willebrand disease. In: Verstraete M, Vermylen J, Lijnen R et al. (eds). Thrombosis and Haemostasis 1987. Leuven: Leuven University Press 1987: 419-45.
    • (1987) Thrombosis and Haemostasis 1987 , pp. 419-445
    • Ruggeri, Z.M.1
  • 31
    • 0019442145 scopus 로고
    • The complex multimeric composition of factor VIII/von Willebrand factor
    • Ruggeri ZM, Zimmerman TS. The complex multimeric composition of factor VIII/von Willebrand factor. Blood 1981; 57: 1140-3.
    • (1981) Blood , vol.57 , pp. 1140-1143
    • Ruggeri, Z.M.1    Zimmerman, T.S.2
  • 32
    • 0018855952 scopus 로고
    • Variant von Willebrand's disease: Characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets
    • Ruggeri ZM, Zimmerman TS. Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 1980; 65: 1318-25.
    • (1980) J Clin Invest , vol.65 , pp. 1318-1325
    • Ruggeri, Z.M.1    Zimmerman, T.S.2
  • 33
    • 0023612519 scopus 로고
    • Von Willebrand factor and von Willebrand disease
    • Ruggeri ZM, Zimmerman TS. Von Willebrand factor and von Willebrand disease. Blood 1987; 70: 895-904.
    • (1987) Blood , vol.70 , pp. 895-904
    • Ruggeri, Z.M.1    Zimmerman, T.S.2
  • 34
    • 0018871618 scopus 로고
    • Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease
    • Ruggeri ZM, Pareti FI, Mannucci PM et al. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease. N Engl J Med 1980; 302: 1047-51.
    • (1980) N Engl J Med , vol.302 , pp. 1047-1051
    • Ruggeri, Z.M.1    Pareti, F.I.2    Mannucci, P.M.3
  • 35
    • 2442469461 scopus 로고
    • Cloning and characterization of two cDNAs coding for human von Willebrand factor
    • Sadler JE, Shelton-Inloes BB, Sorace JM et al. Cloning and characterization of two cDNAs coding for human von Willebrand factor. Proc Natl Acad Sci USA 1985; 82: 6394-8.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 6394-6398
    • Sadler, J.E.1    Shelton-Inloes, B.B.2    Sorace, J.M.3
  • 36
    • 0028201807 scopus 로고
    • A revised classification of von Willebrand disease
    • Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-5.
    • (1994) Thromb Haemost , vol.71 , pp. 520-525
    • Sadler, J.E.1
  • 37
    • 0029916821 scopus 로고    scopus 로고
    • Defective dimerization of von Willebrand factor subunits due to a Cys→ Arg mutation in type IID von Willebrand disease
    • Schneppenheim R, Brassard J, Krey S et al. Defective dimerization of von Willebrand factor subunits due to a Cys→ Arg mutation in type IID von Willebrand disease. Proc Natl Acad Sci USA 1996; 938: 3581-6.
    • (1996) Proc Natl Acad Sci USA , vol.938 , pp. 3581-3586
    • Schneppenheim, R.1    Brassard, J.2    Krey, S.3
  • 38
    • 0029842964 scopus 로고    scopus 로고
    • Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1
    • Schneppenheim R, Budde U, Krey S et al. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1. Thromb Haemost 1996; 764: 598-602.
    • (1996) Thromb Haemost , vol.764 , pp. 598-602
    • Schneppenheim, R.1    Budde, U.2    Krey, S.3
  • 39
    • 0035312967 scopus 로고    scopus 로고
    • Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
    • Schneppenheim R, Budde U, Obser T et al. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease. Blood 2001; 97: 2059-66.
    • (2001) Blood , vol.97 , pp. 2059-2066
    • Schneppenheim, R.1    Budde, U.2    Obser, T.3
  • 40
    • 0033971892 scopus 로고    scopus 로고
    • Von Willebrand Disease type 2M »Vicenza« in Italian and German patients: Identification of the first candidate mutation (G3864A; R1205H) in 8 families
    • Schneppenheim R, Federici AB, Budde U et al. Von Willebrand Disease type 2M »Vicenza« in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. Thromb Haemost 2000; 83: 136-40.
    • (2000) Thromb Haemost , vol.83 , pp. 136-140
    • Schneppenheim, R.1    Federici, A.B.2    Budde, U.3
  • 41
    • 0028027430 scopus 로고
    • Genetic heterogeneity of severe von Willebrand disease type III in the German population
    • Schneppenheim R, Krey S, Bergmann F et al. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum Genet 1994; 94: 640-52.
    • (1994) Hum Genet , vol.94 , pp. 640-652
    • Schneppenheim, R.1    Krey, S.2    Bergmann, F.3
  • 42
    • 0000621493 scopus 로고    scopus 로고
    • The first mutations in von Willebrand disease type IIC Miami
    • Schneppenheim R, Obser T, Drewke E et al. The first mutations in von Willebrand disease type IIC Miami. Thromb Haemost 2001; Suppl: P1805.
    • (2001) Thromb Haemost , Issue.SUPPL.
    • Schneppenheim, R.1    Obser, T.2    Drewke, E.3
  • 43
    • 0003200865 scopus 로고    scopus 로고
    • Characterization of a combined defect of FVIII binding and multimerization in a patient with von Willebrand disease type 2N
    • Schneppenheim R, Obser T, Lenk H et al. Characterization of a combined defect of FVIII binding and multimerization in a patient with von Willebrand disease type 2N. Blood 2000; 96: 566a.
    • (2000) Blood , vol.96
    • Schneppenheim, R.1    Obser, T.2    Lenk, H.3
  • 44
    • 0003228197 scopus 로고    scopus 로고
    • Von Willebrand disease type 2A with aberrant structure of individual oligomers is caused by mutations clustering in the von Willebrand factor D3 domain
    • Schneppenheim R, Obser T, Schneppenheim S et al. Von Willebrand disease type 2A with aberrant structure of individual oligomers is caused by mutations clustering in the von Willebrand factor D3 domain. Blood 2000; 96: 566a.
    • (2000) Blood , vol.96
    • Schneppenheim, R.1    Obser, T.2    Schneppenheim, S.3
  • 45
    • 0023815697 scopus 로고
    • Luminography - An alternative assay for detection of von Willebrand factor multimers
    • Schneppenheim R, Plendl H, Budde U. Luminography - an alternative assay for detection of von Willebrand factor multimers. Thromb Haemost 1988; 60: 133-6.
    • (1988) Thromb Haemost , vol.60 , pp. 133-136
    • Schneppenheim, R.1    Plendl, H.2    Budde, U.3
  • 46
    • 0029027280 scopus 로고
    • Identification of a candidate missense mutation in a family with von Willebrand disease type IIC
    • Schneppenheim R, Thomas KB, Krey S et al. Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. Hum Genet 1995; 956: 681-6.
    • (1995) Hum Genet , vol.956 , pp. 681-686
    • Schneppenheim, R.1    Thomas, K.B.2    Krey, S.3
  • 47
    • 0023237159 scopus 로고
    • Gene deletions correlate with the development of alloantibodies in von Willebrand disease
    • Shelton-Inloes BB, Chehab FF, Mannucci PM et al. Gene deletions correlate with the development of alloantibodies in von Willebrand disease. J Clin Invest 1987; 79: 1459-65.
    • (1987) J Clin Invest , vol.79 , pp. 1459-1465
    • Shelton-Inloes, B.B.1    Chehab, F.F.2    Mannucci, P.M.3
  • 48
    • 77049263615 scopus 로고
    • Vascular hemophilia. A familial hemorraghic disease in males and females characterized by combined antihemophilic globulin deficiency and vascular abnormalities
    • Shulman J, Smith CH, Erlandson M et al. Vascular hemophilia. A familial hemorraghic disease in males and females characterized by combined antihemophilic globulin deficiency and vascular abnormalities. Pediatrics 1956; 18: 347.
    • (1956) Pediatrics , vol.18 , pp. 347
    • Shulman, J.1    Smith, C.H.2    Erlandson, M.3
  • 49
    • 0022423469 scopus 로고
    • Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene
    • Verweij CL, de-Vries CJ, Distel B et al. Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene. Nucleic Acids Res 1985; 13: 4699-717.
    • (1985) Nucleic Acids Res , vol.13 , pp. 4699-4717
    • Verweij, C.L.1    De-Vries, C.J.2    Distel, B.3
  • 50
    • 0001604165 scopus 로고
    • Über ein neues vererbbares Blutungsübel: Die konstitutionelle Thrombopathie
    • Von Willebrand EA, Jürgens R. Über ein neues vererbbares Blutungsübel: die konstitutionelle Thrombopathie. Dtsch Arch Klin Med 1933; 175: 453-83.
    • (1933) Dtsch Arch Klin Med , vol.175 , pp. 453-483
    • Von Willebrand, E.A.1    Jürgens, R.2
  • 52
    • 0025727370 scopus 로고
    • Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor
    • Ware J, Dent JA, Azuma H et al. Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor. Proc Natl Acad Sci USA 1991; 887: 2946-50.
    • (1991) Proc Natl Acad Sci USA , vol.887 , pp. 2946-2950
    • Ware, J.1    Dent, J.A.2    Azuma, H.3
  • 53
    • 0015856625 scopus 로고
    • Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content
    • Weiss HJ, Hoyer LW, Rickles FR et al. Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content. J Clin Invest 1973; 52: 2708-16.
    • (1973) J Clin Invest , vol.52 , pp. 2708-2716
    • Weiss, H.J.1    Hoyer, L.W.2    Rickles, F.R.3
  • 54
    • 0028321794 scopus 로고
    • Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin
    • Zhang ZP, Blomback M, Egberg N et al. Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. Genomics 1994; 211: 188-93.
    • (1994) Genomics , vol.211 , pp. 188-193
    • Zhang, Z.P.1    Blomback, M.2    Egberg, N.3
  • 55
    • 0026640029 scopus 로고
    • Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I
    • Zhang ZP, Lindstedt M, Falk G et al. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. Am J Hum Genet 1992; 51: 850-8.
    • (1992) Am J Hum Genet , vol.51 , pp. 850-858
    • Zhang, Z.P.1    Lindstedt, M.2    Falk, G.3
  • 56
    • 0014976247 scopus 로고
    • Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's disease, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor
    • Zimmerman TS, Ratnoff OD, Powell AE. Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's disease, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor. J Clin Invest 1971; 50: 244-54.
    • (1971) J Clin Invest , vol.50 , pp. 244-254
    • Zimmerman, T.S.1    Ratnoff, O.D.2    Powell, A.E.3


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