Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

Despite the exhaustive screening of F7 gene exons and exon-intron boundaries and promoter region, a significant proportion of mutated alleles remains unidentified in patients with coagulation factor VII deficiency. Here, we applied next-generation sequencing to 13 FVII-deficient patients displaying...

Descripción completa

Detalles Bibliográficos
Autores principales: Ferraresi, Paolo, Balestra, Dario, Guittard, Caroline, Buthiau, Delphine, Pan-Petesh, Brigitte, Maestri, Iva, Farah, Roula, Pinotti, Mirko, Giansily-Blaizot, Muriel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049351/
https://www.ncbi.nlm.nih.gov/pubmed/31273093
http://dx.doi.org/10.3324/haematol.2019.217539

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049351/
https://www.ncbi.nlm.nih.gov/pubmed/31273093
http://dx.doi.org/10.3324/haematol.2019.217539

Ejemplares similares