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...
| Main Authors: | , , , , , , , , |
|---|---|
| 格式: | Article |
| 語言: | English |
| 出版: |
Ferrata Storti Foundation
2020-03-01
|
| 叢編: | Haematologica |
| 在線閱讀: | https://haematologica.org/article/view/9300 |