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...
| Egile Nagusiak: | , , , , , , , , |
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| Formatua: | Artikulua |
| Hizkuntza: | English |
| Argitaratua: |
Ferrata Storti Foundation
2020-03-01
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| Saila: | Haematologica |
| Sarrera elektronikoa: | https://haematologica.org/article/view/9300 |