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dc.contributor.author
Rossetti, Liliana Carmen
dc.contributor.author
Radic, Claudia Pamela
dc.contributor.author
Abelleyro, Miguel Martin
dc.contributor.author
Larripa, Irene Beatriz
dc.contributor.author
de Brasi, Carlos Daniel
dc.date.available
2019-09-27T01:02:04Z
dc.date.issued
2011-10
dc.identifier.citation
Rossetti, Liliana Carmen; Radic, Claudia Pamela; Abelleyro, Miguel Martin; Larripa, Irene Beatriz; de Brasi, Carlos Daniel; Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR; Molecular Diversity Preservation International; International Journal of Molecular Sciences; 12; 10; 10-2011; 7271-7285
dc.identifier.issn
1422-0067
dc.identifier.uri
http://hdl.handle.net/11336/84639
dc.description.abstract
The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984. The aim of this review is to present the wide diversity of practical approaches that have been developed for genotyping the Inv22 (and related int22h rearrangements) since discovery in 1993. The sequence- Southern blot, long distance-PCR and inverse shifting-PCR-for Inv22 genotyping is an interesting example of scientific ingenuity and evolution in order to resolve challenging molecular diagnostic problems.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Molecular Diversity Preservation International
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
dc.subject
INTRON 22 INVERSIONS
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IS-PCR
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LD-PCR
dc.subject.classification
Genética Humana
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-09-20T14:16:21Z
dc.journal.volume
12
dc.journal.number
10
dc.journal.pagination
7271-7285
dc.journal.pais
Suiza
dc.journal.ciudad
Basel
dc.description.fil
Fil: Rossetti, Liliana Carmen. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Radic, Claudia Pamela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Abelleyro, Miguel Martin. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: Larripa, Irene Beatriz. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.description.fil
Fil: de Brasi, Carlos Daniel. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina
dc.journal.title
International Journal of Molecular Sciences
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.mdpi.com/journal/ijms
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.3390/ijms12107271
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