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...
| Главные авторы: | , , , , , , , , |
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| Формат: | Статья |
| Язык: | English |
| Опубликовано: |
Ferrata Storti Foundation
2020-03-01
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| Серии: | Haematologica |
| Online-ссылка: | https://haematologica.org/article/view/9300 |