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....

Descripción completa

Detalles Bibliográficos
Autores principales: Rossetti, Liliana C., Radic, Claudia P., Abelleyro, Miguel M., Larripa, Irene B., De Brasi, Carlos D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2011
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3211038/
https://www.ncbi.nlm.nih.gov/pubmed/22072947
http://dx.doi.org/10.3390/ijms12107271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3211038/
https://www.ncbi.nlm.nih.gov/pubmed/22072947
http://dx.doi.org/10.3390/ijms12107271

Ejemplares similares