Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects

Autores
Rossetti, Liliana Carmen; Radic, Claudia Pamela; Candela, Miguel; Pérez Bianco, Raúl; De Tezanos Pinto, Miguel; Goodeve, Anne; Larripa, Irene Beatriz; de Brasi, Carlos Daniel
Año de publicación
2007
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
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.
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
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
Fil: Candela, Miguel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Pérez Bianco, Raúl. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: De Tezanos Pinto, Miguel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Goodeve, Anne. University of Sheffield Medical School; Reino Unido
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
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
Materia
F8
Hema
Mutation Characterization
Severe Phenotype
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/55955
Acceder
id CONICETDig_c44aeb84092a9ecdc5f384768a14dae4
oai_identifier_str oai:ri.conicet.gov.ar:11336/55955
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defectsRossetti, Liliana CarmenRadic, Claudia PamelaCandela, MiguelPérez Bianco, RaúlDe Tezanos Pinto, MiguelGoodeve, AnneLarripa, Irene Beatrizde Brasi, Carlos DanielF8HemaMutation CharacterizationSevere Phenotypehttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Hemophilia 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.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"; ArgentinaFil: 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"; ArgentinaFil: Candela, Miguel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Pérez Bianco, Raúl. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: De Tezanos Pinto, Miguel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Goodeve, Anne. University of Sheffield Medical School; Reino UnidoFil: 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"; ArgentinaFil: 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"; ArgentinaFerrata Storti Foundation2007-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/55955Rossetti, 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; 842-8451592-8721CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.3324/haematol.11112info:eu-repo/semantics/altIdentifier/url/http://www.haematologica.org/content/92/6/842info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:25:52Zoai:ri.conicet.gov.ar:11336/55955instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-15 15:25:52.837CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
title Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
spellingShingle Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
Rossetti, Liliana Carmen
F8
Hema
Mutation Characterization
Severe Phenotype
title_short Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
title_full Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
title_fullStr Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
title_full_unstemmed Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
title_sort Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
dc.creator.none.fl_str_mv Rossetti, Liliana Carmen
Radic, Claudia Pamela
Candela, Miguel
Pérez Bianco, Raúl
De Tezanos Pinto, Miguel
Goodeve, Anne
Larripa, Irene Beatriz
de Brasi, Carlos Daniel
author Rossetti, Liliana Carmen
author_facet Rossetti, Liliana Carmen
Radic, Claudia Pamela
Candela, Miguel
Pérez Bianco, Raúl
De Tezanos Pinto, Miguel
Goodeve, Anne
Larripa, Irene Beatriz
de Brasi, Carlos Daniel
author_role author
author2 Radic, Claudia Pamela
Candela, Miguel
Pérez Bianco, Raúl
De Tezanos Pinto, Miguel
Goodeve, Anne
Larripa, Irene Beatriz
de Brasi, Carlos Daniel
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv F8
Hema
Mutation Characterization
Severe Phenotype
topic F8
Hema
Mutation Characterization
Severe Phenotype
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv 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.
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
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
Fil: Candela, Miguel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Pérez Bianco, Raúl. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: De Tezanos Pinto, Miguel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
Fil: Goodeve, Anne. University of Sheffield Medical School; Reino Unido
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
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
description 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.
publishDate 2007
dc.date.none.fl_str_mv 2007-06
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/55955
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
1592-8721
CONICET Digital
CONICET
url http://hdl.handle.net/11336/55955
identifier_str_mv 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
1592-8721
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.3324/haematol.11112
info:eu-repo/semantics/altIdentifier/url/http://www.haematologica.org/content/92/6/842
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Ferrata Storti Foundation
publisher.none.fl_str_mv Ferrata Storti Foundation
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1846083402687578112
score 13.22299

Publicaciones similares