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Identification of deep intronic individual variants in patients with hemophilia A by next‐generation sequencing of the whole factor VIII gene
ESSENTIALS: Intronic variants of the factor VIII gene (F8) causing hemophilia A have been reported. We established an analysis method for whole F8 and investigated the variants within its introns. Rare variants located within introns of F8 in patients with hemophilia A are not uncommon. The c.6429+1...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058261/ https://www.ncbi.nlm.nih.gov/pubmed/30046696 http://dx.doi.org/10.1002/rth2.12031 |