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Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A
The importance of genetic diagnosis for patients with hemophilia has been recently demonstrated. However, the pathological variant cannot be identified in some patients. Here, we aimed to identify the pathogenic intronic variant causing hemophilia A using induced pluripotent stem cells (iPSCs) from...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The American Society of Hematology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690555/ https://www.ncbi.nlm.nih.gov/pubmed/37792826 http://dx.doi.org/10.1182/bloodadvances.2023010838 |