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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  
dc.subject
IS-PCR  
dc.subject
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