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• W2009075319 abstract "HaemophiliaVolume 21, Issue 3 p. e240-e242 Letter to the Editor The spectrum of mutations in Southern Spanish patients with von Willebrand disease I. Álvarez-Laderas, I. Álvarez-Laderas Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, SpainSearch for more papers by this authorR. Núñez, R. Núñez Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, SpainSearch for more papers by this authorR. Jiménez-Bárcenas, R. Jiménez-Bárcenas Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, SpainSearch for more papers by this authorF. J. Rodriguez Martorell, F. J. Rodriguez Martorell Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, SpainSearch for more papers by this authorJ. R. Garcia-Lozano, J. R. Garcia-Lozano Immunology Department, University Hospital Virgen del Rocio, Seville, SpainSearch for more papers by this authorC. de Cos, C. de Cos Hematology Department, Hospital Universitario Puerta del Mar, Cádiz, SpainSearch for more papers by this authorR. Pérez Garrido, Corresponding Author R. Pérez Garrido Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, Spain Correspondence: Rosario Pérez Garrido, Unidad de Hemofilia, Hospital Universitario Virgen del Rocio, Manuel Siurot SN, 41013 Seville, Spain. Tel.: +34-955-012223; fax: +34-955-013265; e-mail: [email protected]Search for more papers by this author I. Álvarez-Laderas, I. Álvarez-Laderas Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, SpainSearch for more papers by this authorR. Núñez, R. Núñez Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, SpainSearch for more papers by this authorR. Jiménez-Bárcenas, R. Jiménez-Bárcenas Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, SpainSearch for more papers by this authorF. J. Rodriguez Martorell, F. J. Rodriguez Martorell Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, SpainSearch for more papers by this authorJ. R. Garcia-Lozano, J. R. Garcia-Lozano Immunology Department, University Hospital Virgen del Rocio, Seville, SpainSearch for more papers by this authorC. de Cos, C. de Cos Hematology Department, Hospital Universitario Puerta del Mar, Cádiz, SpainSearch for more papers by this authorR. Pérez Garrido, Corresponding Author R. Pérez Garrido Hematology Department, University Hospital Virgen del Rocio, Institute of Biomedicine of Seville (IBIS), CSIC, University of Seville, Seville, Spain Correspondence: Rosario Pérez Garrido, Unidad de Hemofilia, Hospital Universitario Virgen del Rocio, Manuel Siurot SN, 41013 Seville, Spain. Tel.: +34-955-012223; fax: +34-955-013265; e-mail: [email protected]Search for more papers by this author First published: 17 February 2015 https://doi.org/10.1111/hae.12649Citations: 2Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1Weiss HJ, Sussman II, Hoyer LW. Stabilization of factor VIII in plasm by the von Willebrand factor. Studies on posttransfusion and dissociated factor VIII and in patients with von Willebrand's disease. J Clin Invest 1977; 60: 390– 404. 2Sadler JE. Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem 1998; 67: 395– 424. 3Sadler JE, Budde U, Eikenboom JC et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand factor. J Thromb Haemost 2006; 4: 2103– 14. 4Lillicrap D. von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. Blood 2013; 122: 3735– 40. 5Goodove AC. The genetic basis of von Willebrand disease. Blood Rev 2010; 24: 123– 34. 6Corrales I, Ramírez L, Altisent C, Parra R, Vidal F. Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene. Thromb Haemost 2009; 101: 570– 6. 7James PD, Notley C, Hegadorn C et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 2007; 109; 145– 54. 8Goodeve A, Eikenboom J, Castaman G et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007; 109: 112– 21. 9Lyons SE, Bruck ME, Bowie EJ, Ginsburg D. Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations. J Biol Chem 1992; 267: 4424– 30. 10Meyer 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– 6. 11Lankhof H, Damas C, Schiphorst ME et al. Functional studies on platelet adhesion with recombinant von Willebrand factor type 2B mutants R543Q and R543W under conditions of flow. Blood 1997; 89; 2766– 72. 12Cooney KA, Lyons SE, Ginsburg D. Functional analysis of a 2B von Willebrand disease missense mutation: increased binding of large von Willebrand factor multimers to platelets. Proc Natl Acad Sci USA 1992; 89: 2869– 72. 13Randi AM, Rabinowitz I, Mancuso DJ, Mannucci PM, Sadler JE. 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; 87; 1220– 6. 14Cooney 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; 87: 1227– 33. Citing Literature Volume21, Issue3May 2015Pages e240-e242 ReferencesRelatedInformation" @default.
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