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Volumn 80, Issue 3, 2005, Pages 188-196

Von Willebrand disease R1374C: Type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia)

Author keywords

Collagen binding assay; R1374C mutation; Subtypes 2A and 2M; Von Willebrand disease; VWF

Indexed keywords

COLLAGEN; RISTOCETIN;

EID: 27644540337     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.20470     Document Type: Article
Times cited : (38)

References (23)
  • 3
    • 0028201807 scopus 로고
    • A revised classification of von Willebrand disease
    • For the subcommittee of von Willebrand Factor of the Scientific and Standardization Committee of International Society on Thrombosis and Haemostasis
    • Sadler JE. A revised classification of von Willebrand disease. For the subcommittee of von Willebrand Factor of the Scientific and Standardization Committee of International Society on Thrombosis and Haemostasis. Thromb Haemost 1994;71:520-525.
    • (1994) Thromb Haemost , vol.71 , pp. 520-525
    • Sadler, J.E.1
  • 4
    • 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
  • 5
    • 0035746912 scopus 로고    scopus 로고
    • Von Willebrand factor and von Willebrand disease
    • Budde U, Schneppenheim R. von Willebrand factor and von Willebrand disease. Rev Clin Exp Hematol 2001;5(4):335-361.
    • (2001) Rev Clin Exp Hematol , vol.5 , Issue.4 , pp. 335-361
    • Budde, U.1    Schneppenheim, R.2
  • 7
    • 0034537373 scopus 로고    scopus 로고
    • Ristocetin cofactor and collagen binding normalized to antigen levels for a rapid diagnosis of type 2 von Willebrand disease: Single center comparison of four different assays
    • Federici AB, Canciani MT, Forza I, Cozzi G. Ristocetin cofactor and collagen binding normalized to antigen levels for a rapid diagnosis of type 2 von Willebrand disease: single center comparison of four different assays. Thromb Haemost 2000;84:1127-1128.
    • (2000) Thromb Haemost , vol.84 , pp. 1127-1128
    • Federici, A.B.1    Canciani, M.T.2    Forza, I.3    Cozzi, G.4
  • 8
    • 0025236609 scopus 로고
    • Luminographic detection of von Willebrand factor multimers in agarose gels and on nitrocellulose membranes
    • Budde U, Schneppenheim R, Plendl H, Dent J, Ruggeri ZM, Zimmerman TS. Luminographic detection of von Willebrand factor multimers in agarose gels and on nitrocellulose membranes. Thromb Haemost 1990;63(2):312-315.
    • (1990) Thromb Haemost , vol.63 , Issue.2 , pp. 312-315
    • Budde, U.1    Schneppenheim, R.2    Plendl, H.3    Dent, J.4    Ruggeri, Z.M.5    Zimmerman, T.S.6
  • 9
    • 1842353216 scopus 로고
    • Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
    • Kunkel LM, Smith KD, Boyer SH, et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A 1977;74:1245-1249.
    • (1977) Proc Natl Acad Sci U S A , vol.74 , pp. 1245-1249
    • Kunkel, L.M.1    Smith, K.D.2    Boyer, S.H.3
  • 10
    • 12144289138 scopus 로고    scopus 로고
    • Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: Results of a multicenter European study
    • Federici AB, Mazurier C, Berntorp E, et al. Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study. Blood 2004;103:2032-2038.
    • (2004) Blood , vol.103 , pp. 2032-2038
    • Federici, A.B.1    Mazurier, C.2    Berntorp, E.3
  • 11
    • 0032519496 scopus 로고    scopus 로고
    • Screening for von Willebrand disease with a new analyzer using high shear stress: A study of 60 cases
    • Fressinaud E, Veyradier A, Truchaud F, et al. Screening for von Willebrand disease with a new analyzer using high shear stress: a study of 60 cases. Blood 1998;91:1325-1331.
    • (1998) Blood , vol.91 , pp. 1325-1331
    • Fressinaud, E.1    Veyradier, A.2    Truchaud, F.3
  • 12
    • 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: 19514-19527.
    • (1989) J Biol Chem , vol.264 , pp. 19514-19527
    • Mancuso, D.J.1    Tuley, E.A.2    Westfield, L.A.3
  • 13
    • 0029101406 scopus 로고
    • Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (FVW) responsible for type 2 von Willebrand disease with decrease platelet-dependent function of VWF
    • Hilbert L, Gaucher C, Mazurier C. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (FVW) responsible for type 2 von Willebrand disease with decrease platelet-dependent function of VWF. Blood 1995;86:1010-1018.
    • (1995) Blood , vol.86 , pp. 1010-1018
    • Hilbert, L.1    Gaucher, C.2    Mazurier, C.3
  • 14
    • 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;78:451-456.
    • (1997) Thromb Haemost , vol.78 , pp. 451-456
    • Meyer, D.1    Fressinaud, E.2    Gaucher, C.3
  • 15
    • 0006166526 scopus 로고    scopus 로고
    • Mutations at position 513, 552, 611 and 695 in the A1 loop of von Willebrand factor induce a type 2A phenotype, usefulness of botrocetin to distinguish type 2A and 2M von Willebrand disease
    • Ribba AS, Hilbert L, Lavergne JM, Fressinaud E, Mazurier C, Meyer D. Mutations at position 513, 552, 611 and 695 in the A1 loop of von Willebrand factor induce a type 2A phenotype, usefulness of botrocetin to distinguish type 2A and 2M von Willebrand disease. Thromb Haemost 1999;(Suppl):510.
    • (1999) Thromb Haemost , Issue.SUPPL. , pp. 510
    • Ribba, A.S.1    Hilbert, L.2    Lavergne, J.M.3    Fressinaud, E.4    Mazurier, C.5    Meyer, D.6
  • 16
    • 0035133077 scopus 로고    scopus 로고
    • Type 2M von Willebrand disease variant characterized by abnormal von Willebrand factor multimerization
    • Casonato AJ, Pontara E, Sartorello F, Bertomoro A, Durante C, Girolami A. Type 2M von Willebrand disease variant characterized by abnormal von Willebrand factor multimerization. J Lab Clin Med 2001;137:70-76.
    • (2001) J Lab Clin Med , vol.137 , pp. 70-76
    • Casonato, A.J.1    Pontara, E.2    Sartorello, F.3    Bertomoro, A.4    Durante, C.5    Girolami, A.6
  • 17
    • 25344443362 scopus 로고
    • A novel von Willebrand factor Arg611Cys or VWF Columbia associated with a dominant von Willebrand disease variant
    • abstract
    • Hakami N, Shibuya H, Johnson GS, Stoy SI, Huang TH, Montgomery RR. A novel von Willebrand factor Arg611Cys or VWF Columbia associated with a dominant von Willebrand disease variant. Blood 1993;82:149a (abstract).
    • (1993) Blood , vol.82
    • Hakami, N.1    Shibuya, H.2    Johnson, G.S.3    Stoy, S.I.4    Huang, T.H.5    Montgomery, R.R.6
  • 18
    • 0033985083 scopus 로고    scopus 로고
    • Collagen binding assay for von Willebrand factor (VWF:CBA): Detection of von Willebrand's disease (VWD), and discrimination of VWD subtypes depends on collagen sources
    • Favaloro EJ. Collagen binding assay for von Willebrand factor (VWF:CBA): detection of von Willebrand's disease (VWD), and discrimination of VWD subtypes depends on collagen sources. Thromb Haemost 2000;83:127-135.
    • (2000) Thromb Haemost , vol.83 , pp. 127-135
    • Favaloro, E.J.1
  • 19
    • 0036162077 scopus 로고    scopus 로고
    • Use of the collagen-binding assay for von Willebrand factor in the analysis of type 2M von Willebrand disease: A comparison with the ristocetin cofactor assay
    • Riddell AF, Jenkins PV, Nitu-Whalley IC, Mc Craw AH, Lee CA, Brown SA. Use of the collagen-binding assay for von Willebrand factor in the analysis of type 2M von Willebrand disease: a comparison with the ristocetin cofactor assay. Br J Haematol 2002; 116:187-192.
    • (2002) Br J Haematol , vol.116 , pp. 187-192
    • Riddell, A.F.1    Jenkins, P.V.2    Nitu-Whalley, I.C.3    Mc Craw, A.H.4    Lee, C.A.5    Brown, S.A.6
  • 20
    • 12244272130 scopus 로고    scopus 로고
    • Von Willebrand's disease in the year 2003: Towards the complete identification of gene defects for correct diagnosis and treatment
    • Castaman G, Federici AB, Rodeghiero F, Mannucci PM. von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica 2003;88:94-108.
    • (2003) Haematologica , vol.88 , pp. 94-108
    • Castaman, G.1    Federici, A.B.2    Rodeghiero, F.3    Mannucci, P.M.4
  • 21
    • 27644552117 scopus 로고    scopus 로고
    • Tratamiento de la enfermedad de von Willebrand
    • Batlle Fonrodona J, Rocha Hernando E, editors. Barcelona: Acción Médica S.A.
    • Noya MS, Batlle J. Tratamiento de la enfermedad de von Willebrand. In: Batlle Fonrodona J, Rocha Hernando E, editors. Guía práctica de coagulopatías congénitas. Barcelona: Acción Médica S.A.; 2001. p 181-204.
    • (2001) Guía Práctica de Coagulopatías Congénitas , pp. 181-204
    • Noya, M.S.1    Batlle, J.2
  • 23
    • 0742287907 scopus 로고    scopus 로고
    • C1272S: A new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP 1b-1X
    • Penas N, Perez A, Gonzalez-Boullosa R, Batlle J. C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP 1b-1X. Am J Hematol 2004; 75:73-77.
    • (2004) Am J Hematol , vol.75 , pp. 73-77
    • Penas, N.1    Perez, A.2    Gonzalez-Boullosa, R.3    Batlle, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.