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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
2020-02-14T15:41:41Z
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/11336/97553
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
dc.subject.classification
Medicina Básica
dc.subject.classification
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
2020-01-30T14:54:10Z
dc.journal.volume
12
dc.journal.number
10
dc.journal.pagination
7271-7285
dc.journal.pais
Suiza
dc.journal.ciudad
Basilea
dc.journal.title
International Journal of Molecular Sciences
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3211038/
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.3390/ijms12107271
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/1422-0067/12/10/7271


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