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

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...

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Hlavní autoři: Paolo Ferraresi, Dario Balestra, Caroline Guittard, Delphine Buthiau, Brigitte Pan-Petesh, Iva Maestri, Roula Farah, Mirko Pinotti, Muriel Giansily-Blaizot
Médium: Článek
Jazyk:English
Vydáno: Ferrata Storti Foundation 2020-03-01
Edice:Haematologica
On-line přístup:https://haematologica.org/article/view/9300

Internet

https://haematologica.org/article/view/9300

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