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dc.contributor.author
Rossetti, Liliana Carmen
dc.contributor.author
Radic, Claudia Pamela
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Candela, Miguel
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Pérez Bianco, Raúl
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De Tezanos Pinto, Miguel
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Goodeve, Anne
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Larripa, Irene Beatriz
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de Brasi, Carlos Daniel
dc.date.available
2018-08-16T18:07:05Z
dc.date.issued
2007-06
dc.identifier.citation
Rossetti, Liliana Carmen; Radic, Claudia Pamela; Candela, Miguel; Pérez Bianco, Raúl; De Tezanos Pinto, Miguel; et al.; Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects; Ferrata Storti Foundation; Haematologica; 92; 6; 6-2007; 842-845
dc.identifier.issn
1592-8721
dc.identifier.uri
http://hdl.handle.net/11336/55955
dc.description.abstract
Hemophilia A (HA) is caused by heterogeneous mutations in the factor VIII gene (F8). This paper reports 16 novel small F8-mutations and rearrangements in a series of 80 Argentinian families with severe-HA. Using an updated scheme for F8-analysis, we found 37 F8-inversions (46%), 10 large deletions (13%), 13 small ins/del (16%), 7 nonsense (9%) and 8 missense mutations (10%), including 4 new ones (p.T233K, p.W1942R, p.L2297P and p.L2301S). The potential changes leading to severe-HA of these latter mutations were suggested by bioinformatics. The F8-mutation was characterised in 76 families (95%). They received genetic counselling and precise information about treatment design. ©2007 Ferrata Storti Foundation.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Ferrata Storti Foundation
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
F8
dc.subject
Hema
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Mutation Characterization
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Severe Phenotype
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Genética Humana
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-08-13T18:47:12Z
dc.journal.volume
92
dc.journal.number
6
dc.journal.pagination
842-845
dc.journal.pais
Italia
dc.journal.ciudad
Pavia
dc.description.fil
Fil: Rossetti, Liliana Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Radic, Claudia Pamela. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Candela, Miguel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Pérez Bianco, Raúl. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: De Tezanos Pinto, Miguel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Goodeve, Anne. University of Sheffield Medical School; Reino Unido
dc.description.fil
Fil: Larripa, Irene Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: de Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.journal.title
Haematologica
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.3324/haematol.11112
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.haematologica.org/content/92/6/842
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