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Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR

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....

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Autori principali: Rossetti, Liliana C., Radic, Claudia P., Abelleyro, Miguel M., Larripa, Irene B., De Brasi, Carlos D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Diversity Preservation International (MDPI) 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3211038/
https://ncbi.nlm.nih.gov/pubmed/22072947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms12107271
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