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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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| Publicado no: | Haematologica |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Ferrata Storti Foundation
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7049351/ https://ncbi.nlm.nih.gov/pubmed/31273093 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2019.217539 |
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