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dc.contributor.author
Woods, Adriana Inés
dc.contributor.author
Kempfer, Ana Catalina
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Sanchez Luceros, Analia Gabriela
dc.contributor.author
Calderazzo, Julio César
dc.contributor.author
Grosso, S. H.
dc.contributor.author
Lazzari, María Ángela
dc.date.available
2017-07-18T15:57:49Z
dc.date.issued
2013-05
dc.identifier.citation
Woods, Adriana Inés; Kempfer, Ana Catalina; Sanchez Luceros, Analia Gabriela; Calderazzo, Julio César; Grosso, S. H.; et al.; Clinical profile of the association of P.R1205h and P.R924q in a patient with von Willebrand's disease; Wiley; Haemophilia; 19; 3; 5-2013; 180-181
dc.identifier.issn
1351-8216
dc.identifier.uri
http://hdl.handle.net/11336/20801
dc.description.abstract
von Willebrand's disease (VWD)-type Vicenza is characterized by a mild-moderate bleeding tendency, presence of ultralarge multimers (ULVWF), low von Willebrand's factor (VWF) and factor VIII (FVIII:C), attributed to reduced VWF survival, and the propeptide/ VWF ratio (VWFpp/VWF:Ag) is increased. Patients with p.R1205H had a 5-10-fold increase in FVIII and 5-fold increase in VWF:RCo after DDAVP, although their levels did not reach normal values. p.R924Q was previously reported as a polymorphism (SNP), in association with type 1 VWD, responsible of VWD2N phenotype by us, and the Brazilian group (Hemocentro UNICAMP, www.vwf.group.shef.ac.uk), as a marker of null allele, and as responsible for reductions in VWF and FVIII levels, particularly in combination with O blood group, and with a second mutation.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Von Willebrand Disease
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Vicenza
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Normandy
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Genotype
dc.subject.classification
Hematología
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Medicina Clínica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Clinical profile of the association of P.R1205h and P.R924q in a patient with von Willebrand's disease
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2017-07-17T21:14:09Z
dc.identifier.eissn
1365-2516
dc.journal.volume
19
dc.journal.number
3
dc.journal.pagination
180-181
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Hoboken
dc.description.fil
Fil: Woods, Adriana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Kempfer, Ana Catalina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Sanchez Luceros, Analia Gabriela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex". Departamento de Hemostasia y Trombosis; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Calderazzo, Julio César. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Grosso, S. H.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex". Departamento de Hemostasia y Trombosis; Argentina
dc.description.fil
Fil: Lazzari, María Ángela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex". Departamento de Hemostasia y Trombosis; Argentina
dc.journal.title
Haemophilia
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1111/hae.12126
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1111/hae.12126/abstract
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