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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...

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Detalles Bibliográficos
Autores principales:	Hiramoto, Takafumi, Inaba, Hiroshi, Baatartsogt, Nemekhbayar, Kashiwakura, Yuji, Hayakawa, Morisada, Kamoshita, Nobuhiko, Nishimasu, Hiroshi, Nureki, Osamu, Kinai, Ei, Ohmori, Tsukasa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The American Society of Hematology 2023
Materias:	Thrombosis and Hemostasis
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

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